Strategies to decrease inequalities in cancer therapeutics, care and prevention.

Ringborg U, von Braun J, Celis J, Baumann M, Berns A, Eggermont A, Heard E, Heitor M, Chandy M, Chen CJ, Costa A, De Lorenzo F, De Robertis EM, Dubee FC, Ernberg I, Gabriel M, Helland Å, Henrique R, Jönsson B, Kallioniemi O, Korbel J, Krause M, Lowy DR, Michielin O, Nagy P, Oberst S, Paglia V, Parker MI, Ryan K, Sawyers CL, Schüz J, Silkaitis K, Solary E, Thomas D, Turkson P, Weiderpass E, Yang H

Molecular oncology, 2023

doi:10.1002/1878-0261.13575.

MosaiCatcher v2: a single-cell structural variations detection and analysis reference framework based on Strand-seq.

Weber T, Cosenza MR, Korbel J

Bioinformatics (Oxford, England), 2023

doi:10.1093/bioinformatics/btad633.

Assembly of 43 human Y chromosomes reveals extensive complexity and variation.

Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, Li C, Hoyt SJ, Dishuck PC, Porubsky D, Tsetsos F, Kwon JY, Zhu Q, Munson KM, Hasenfeld P, Harvey WT, Lewis AP, Kordosky J, Hoekzema K, Human Genome Structural Variation Consortium (HGSVC), O'Neill RJ, Korbel JO, Tyler-Smith C, Eichler EE, Shi X, Beck CR, Marschall T, Konkel MK, Lee C

Nature, 2023

doi:10.1038/s41586-023-06425-6.

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.

Sanjaya P, Maljanen K, Katainen R, Waszak SM, Genomics England Research Consortium, Aaltonen LA, Stegle O, Korbel JO, Pitkänen E

Genome medicine, 2023

doi:10.1186/s13073-023-01204-4.

Pangenome graph construction from genome alignments with Minigraph-Cactus.

Hickey G, Monlong J, Ebler J, Novak AM, Eizenga JM, Gao Y, Human Pangenome Reference Consortium, Marschall T, Li H, Paten B

Nature biotechnology, 2023

doi:10.1038/s41587-023-01793-w.

A draft human pangenome reference.

Martin FJ, Billis K, Fairley S, Frankish A, Giron CG, Haggerty L, Hourlier T, Korbel JO, Tricomi FF, Flicek P

Nature, 2023

doi:10.1038/s41586-023-05896-x.

Inversion polymorphism in a complete human genome assembly.

Porubsky D, Harvey WT, Rozanski AN, Ebler J, Höps W, Ashraf H, Hasenfeld P, Human Pangenome Reference Consortium (HPRC), Human Genome Structural Variation Consortium (HGSVC), Paten B, Sanders AD, Marschall T, Korbel JO, Eichler EE

Genome biology, 2023

doi:10.1186/s13059-023-02919-8.

Gaps and complex structurally variant loci in phased genome assemblies.

Porubsky D, Vollger MR, Harvey WT, Rozanski AN, Ebert P, Hickey G, Hasenfeld P, Sanders AD, Stober C, Human Pangenome Reference Consortium, Korbel JO, Paten B, Marschall T, Eichler EE

Genome research, 2023

doi:10.1101/gr.277334.122.

Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures.

Rausch T, Snajder R, Leger A, Simovic M, Giurgiu M, Villacorta L, Henssen AG, Fröhling S, Stegle O, Birney E, Bonder MJ, Ernst A, Korbel JO

Cell genomics, 2023

doi:10.1016/j.xgen.2023.100281.

Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.

Cortés-Ciriano I, Lee JJ, Xi R, Jain D, Jung YL, Yang L, Gordenin D, Klimczak LJ, Zhang CZ, Pellman DS, PCAWG Structural Variation Working Group, Park PJ, PCAWG Consortium

Nature genetics, 2023

doi:10.1038/s41588-023-01315-z.

Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.

Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Dentro SC, Blanco MG, Contino G, Ardeljan D, Tojo M, Roberts ND, Zumalave S, Edwards PA, Weischenfeldt J, Puiggròs M, Chong Z, Chen K, Lee EA, Wala JA, Raine KM, Butler A, Waszak SM, Navarro FCP, Schumacher SE, Monlong J, Maura F, Bolli N, Bourque G, Gerstein M, Park PJ, Wedge DC, Beroukhim R, Torrents D, Korbel JO, Martincorena I, Fitzgerald RC, Van Loo P, Kazazian HH, Burns KH, PCAWG Structural Variation Working Group, Campbell PJ, Tubio JMC, PCAWG Consortium

Nature genetics, 2023

doi:10.1038/s41588-023-01319-9.

Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes

Yakneen S, Waszak SM, PCAWG Technical Working Group, Gertz M, Korbel JO; PCAWG Consortium

Nature biotechnology, 2023

doi:10.1038/s41587-022-01554-1.

Author correction: the NSL complex maintains nuclear architecture stability via lamin A/C acetylation.

Karoutas A, Szymanski W, Rausch T, Guhathakurta S, Rog-Zielinska EA, Peyronnet R, Seyfferth J, Chen HR, de Leeuw R, Herquel B, Kimura H, Mittler G, Kohl P, Medalia O, Korbel JO, Akhtar A

Nature cell biology, 2023

doi:10.1038/s41556-023-01106-y.

Author correction: patterns of somatic structural variation in human cancer genomes.

Li Y, Roberts ND, Wala JA, Shapira O, Schumacher SE, Kumar K, Khurana E, Waszak S, Korbel JO, Haber JE, Imielinski M, Imielinski M, Weischenfeldt J, Beroukhim R, Campbell PJ, Campbell PJ

Nature, 2023

doi:10.1038/s41586-022-05597-x.

Author correction: genomic basis for RNA alterations in cancer.

PCAWG Transcriptome Core Group, Calabrese C, Davidson NR, Demircioğlu D, Fonseca NA, He Y, Kahles A, Lehmann KV, Liu F, Shiraishi Y, Soulette CM, Urban L, Greger L, Li S, Liu D, Perry MD, Xiang Q, Zhang F, Zhang J, Bailey P, Erkek S, Hoadley KA, Hou Y, Huska MR, Kilpinen H, Korbel JO, Marin MG, Markowski J, Nandi T, Pan-Hammarström Q, Pedamallu CS, Siebert R, Stark SG, Su H, Tan P, Waszak SM, Yung C, Zhu S, Awadalla P, Creighton CJ, Meyerson M, Ouellette BFF, Wu K, Yang H; PCAWG Transcriptome Working Group, Brazma A, Brooks AN, Göke J, Rätsch G, Schwarz RF, Stegle O, Zhang Z; PCAWG Consortium

Nature, 2023

doi:10.1038/s41586-022-05596-y.

Author correction: analyses of non-coding somatic drivers in 2,658 cancer whole genomes.

Rheinbay E, Nielsen MM, Abascal F, Wala JA, Shapira O, Tiao G, Hornshøj H, Hess JM, Juul RI, Lin Z, Feuerbach L, Sabarinathan R, Madsen T, Kim J, Mularoni L, Lanzós A, Shuai S, Maruvka YE, Herrmann C, Amin SB, Shen C, Bertl J, Bandopadhayay P, Busanovich J, Boroevich KA, Chakravarty D, Carlevaro-Fita J, Craft D, Chan CWY, Diamanti K, Dhingra P, Guo Q, Hamilton MP, Fonseca NA, Gonzalez-Perez A, Isaev K, Johnson TA, Haradhvala NJ, Hong C, Kahraman A, Kim Y, Juul M, Kahles A, Kumar S, Lee D, Komorowski J, Kumar K, Lochovsky L, Liu EM, Li Y, Lehmann KV, Saksena G, Roberts ND, Pich O, Park K, Sinnott-Armstrong N, Sieverling L, Sidiropoulos N, Schumacher SE, Umer HM, Tubio JMC, Tamborero D, Stewart C, Zhang CZ, Zhang J, Haber JE, Hobolth A, Uusküla-Reimand L, Wadelius C, Wadi L, Yao X, Nakagawa H, Raphael BJ, Rubin MA, Sander C, Stein LD, Stuart JM, Tsunoda T, Wheeler DA, Johnson R, Reimand J, Gerstein M, Khurana E, Campbell PJ, López-Bigas N; PCAWG Drivers and Functional Interpretation Working Group; PCAWG Structural Variation Working Group, Weischenfeldt J, Beroukhim R, Martincorena I, Pedersen JS, Getz G; PCAWG Consortium

Nature, 2023

doi:10.1038/s41586-022-05599-9.

Functional analysis of structural variants in single cells using Strand-seq.

Jeong H, Grimes K, Rauwolf KK, Bruch PM, Rausch T, Hasenfeld P, Benito E, Roider T, Sabarinathan R, Porubsky D, Herbst SA, Erarslan-Uysal B, Jann JC, Marschall T, Nowak D, Bourquin JP, Kulozik AE, Dietrich S, Bornhauser B, Sanders AD, Korbel JO

Nature biotechnology, 2022

doi:10.1038/s41587-022-01551-4.

Semi-automated assembly of high-quality diploid human reference genomes.

Jarvis ED, Formenti G, Rhie A, Guarracino A, Yang C, Wood J, Tracey A, Thibaud-Nissen F, Vollger MR, Porubsky D, Cheng H, Asri M, Logsdon GA, Carnevali P, Chaisson MJP, Chin CS, Cody S, Collins J, Ebert P, Escalona M, Fedrigo O, Fulton RS, Fulton LL, Garg S, Gerton JL, Ghurye J, Granat A, Green RE, Harvey W, Hasenfeld P, Hastie A, Haukness M, Jaeger EB, Jain M, Kirsche M, Kolmogorov M, Korbel JO, Koren S, Korlach J, Lee J, Li D, Lindsay T, Lucas J, Luo F, Marschall T, Mitchell MW, McDaniel J, Nie F, Olsen HE, Olson ND, Pesout T, Potapova T, Puiu D, Regier A, Ruan J, Salzberg SL, Sanders AD, Schatz MC, Schmitt A, Schneider VA, Selvaraj S, Shafin K, Shumate A, Stitziel NO, Stober C, Torrance J, Wagner J, Wang J, Wenger A, Xiao C, Zimin AV, Zhang G, Wang T, Li H, Garrison E, Haussler D, Hall I, Zook JM, Eichler EE, Phillippy AM, Paten B, Howe K, Miga KH, Human Pangenome Reference Consortium

Nature, 2022

doi:10.1038/s41586-022-05325-5.

A high-resolution map of small-scale inversions in the gibbon genome.

Mercuri L, Palmisano D, L'Abbate A, D'Addabbo P, Montinaro F, Catacchio CR, Hasenfeld P, Ventura M, Korbel JO, Sanders AD, Maggiolini FAM, Antonacci F

Genome research, 2022

doi:10.1101/gr.276960.122.

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.

Byrska-Bishop M, Evani US, Zhao X, Basile AO, Abel HJ, Regier AA, Corvelo A, Clarke WE, Musunuri R, Nagulapalli K, Fairley S, Runnels A, Winterkorn L, Lowy E, Human Genome Structural Variation Consortium, Paul Flicek, Germer S, Brand H, Hall IM, Talkowski ME, Narzisi G, Zody MC

Cell, 2022

doi:10.1016/j.cell.2022.08.004.

Structural variation in cancer: role, prevalence, and mechanisms.

Cosenza MR, Rodriguez-Martin B, Korbel JO

Annual review of genomics and human genetics, 2022

doi:10.1146/annurev-genom-120121-101149.

Rare germline variants are associated with rapid biochemical recurrence after radical prostate cancer treatment: a pan prostate cancer group study.

Burns D, Anokian E, Saunders EJ, Bristow RG, Fraser M, Reimand J, Schlomm T, Sauter G, Brors B, Korbel J, Weischenfeldt J, Waszak SM, Corcoran NM, Jung CH, Pope BJ, Hovens CM, Cancel-Tassin G, Cussenot O, Loda M, Sander C, Hayes VM, Dalsgaard Sorensen K, Lu YJ, Hamdy FC, Foster CS, Gnanapragasam V, Butler A, Lynch AG, Massie CE, CR-UK/Prostate Cancer UK, ICGC, The PPCG, Woodcock DJ, Cooper CS, Wedge DC, Brewer DS, Kote-Jarai Z, Eeles RA

European urology, 2022

doi:10.1016/j.eururo.2022.05.007.

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Richter-Pechańska P, Kunz JB, Rausch T, Erarslan-Uysal B, Bornhauser B, Frismantas V, Assenov Y, Zimmermann M, Happich M, von Knebel-Doeberitz C, von Neuhoff N, Köhler R, Stanulla M, Schrappe M, Cario G, Escherich G, Kirschner-Schwabe R, Eckert C, Avigad S, Pfister SM, Muckenthaler MU, Bourquin JP, Korbel JO, Kulozik AE

Leukemia, 2022

doi:10.1038/s41375-022-01587-0.

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.

Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, Benito E, Zhu Q, Human Genome Structural Variation Consortium (HGSVC), Lee C, Antonacci F, Steinrücken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO

Cell, 2022

doi:10.1016/j.cell.2022.04.017.

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.

Ebler J, Ebert P, Clarke WE, Rausch T, Audano PA, Houwaart T, Mao Y, Korbel JO, Eichler EE, Zody MC, Dilthey AT, Marschall T

Nature genetics, 2022

doi:10.1038/s41588-022-01043-w.

Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B cell lymphomas.

Lopez C, Schleussner N, Bernhart SH, Kleinheinz K, Sungalee S, Sczakiel HL, Kretzmer H, Toprak UH, Glaser S, Wagener R, Ammerpohl O, Bens S, Giefing M, Sanchez JCG, Apic G, Hubschmann D, Janz M, Kreuz M, Mottok A, Muller JM, Seufert J, Hoffmann S, Korbel JO, Russell RB, Schule R, Trumper L, Klapper W, Radlwimmer B, Lichter P, Kuppers R, Schlesner M, Mathas S, Siebert R

Haematologica, 2022

doi:10.3324/haematol.2021.280005.

Familial long-read sequencing increases yield of de novo mutations.

Noyes MD, Harvey WT, Porubsky D, Sulovari A, Li R, Rose NR, Audano PA, Munson KM, Lewis AP, Hoekzema K, Mantere T, Graves-Lindsay TA, Sanders AD, Goodwin S, Kramer M, Mokrab Y, Zody MC, Hoischen A, Korbel JO, McCombie WR, Eichler EE

American journal of human genetics, 2022

doi:10.1016/j.ajhg.2022.02.014.

Somatic structural variant formation is guided by and influences genome architecture.

Sidiropoulos N, Mardin BR, Rodriguez-Gonzalez FG, Garg S, Stuetz AM, Korbel JO, Aiden EL, Weischenfeldt J

Genome research, 2022

doi:10.1101/gr.275790.121.

The X chromosome from telomere to telomere: key achievements and future opportunities.

Heard E, Johnson AD, Korbel JO, Lee C, Snyder MP, Sturgill D

Faculty reviews, 2021

doi:10.12703/r-01-000001.

Chromothripsis followed by circular recombination drives oncogene amplification in human cancer.

Rosswog C, Bartenhagen C, Welte A, Kahlert Y, Hemstedt N, Lorenz W, Cartolano M, Ackermann S, Perner S, Vogel W, Altmüller J, Nürnberg P, Hertwig F, Göhring G, Lilienweiss E, Stütz AM, Korbel JO, Thomas RK, Peifer M, Fischer M

Nature genetics, 2021

doi:10.1038/s41588-021-00951-7.

Systems approaches identify the consequences of monosomy in somatic human cells.

Chunduri NK, Menges P, Zhang X, Wieland A, Gotsmann VL, Mardin BR, Buccitelli C, Korbel JO, Willmund F, Kschischo M, Raeschle M, Storchova Z

Nature communications, 2021

doi:10.1038/s41467-021-25288-x.

The Porto European Cancer Research Summit 2021.

Ringborg U, Berns A, Celis JE, Heitor M, Tabernero J, Schüz J, Baumann M, Henrique R, Aapro M, Basu P, Beets-Tan R, Besse B, Cardoso F, Carneiro F, van den Eede G, Eggermont A, Fröhling S, Galbraith S, Garralda E, Hanahan D, Hofmarcher T, Jönsson B, Kallioniemi O, Kásler M, Kondorosi E, Korbel J, Lacombe D, Carlos Machado J, Martin-Moreno JM, Meunier F, Nagy P, Nuciforo P, Oberst S, Oliveiera J, Papatriantafyllou M, Ricciardi W, Roediger A, Ryll B, Schilsky R, Scocca G, Seruca R, Soares M, Steindorf K, Valentini V, Voest E, Weiderpass E, Wilking N, Wren A, Zitvogel L

Molecular oncology, 2021

doi:10.1002/1878-0261.13078.

Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas.

Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R

Leukemia, 2021

doi:10.1038/s41375-021-01251-z.

ASHLEYS: automated quality control for single-cell Strand-seq data.

Eimer C, Sanders AD, Korbel JO, Marschall T, Ebert P

Bioinformatics (Oxford, England), 2021

doi:10.1093/bioinformatics/btab221.

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.

Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H, Walker M, Lowther C, Fu J, Human Genome Structural Variation Consortium, Gerstein MB, Devine SE, Marschall T, Korbel JO, Eichler EE, Chaisson MJP, Lee C, Mills RE, Brand H, Talkowski ME

American journal of human genetics, 2021

doi:10.1016/j.ajhg.2021.03.014.

Publisher Correction: LifeTime and improving European healthcare through cell-based interceptive medicine.

Rajewsky N, Almouzni G, Gorski SA, Aerts S, Amit I, Bertero MG, Bock C, Bredenoord AL, Cavalli G, Chiocca S, Clevers H, De Strooper B, Eggert A, Ellenberg J, Fernández XM, Figlerowicz M, Gasser SM, Hubner N, Kjems J, Knoblich JA, Krabbe G, Lichter P, Linnarsson S, Marine JC, Marioni JC, Marti-Renom MA, Netea MG, Nickel D, Nollmann M, Novak HR, Parkinson H, Piccolo S, Pinheiro I, Pombo A, Popp C, Reik W, Roman-Roman S, Rosenstiel P, Schultze JL, Stegle O, Tanay A, Testa G, Thanos D, Theis FJ, Torres-Padilla ME, Valencia A, Vallot C, van Oudenaarden A, Vidal M, Voet T, LifeTime Community Working Groups

Nature, 2021

doi:10.1038/s41586-021-03287-8.

Haplotype-resolved diverse human genomes and integrated analysis of structural variation.

Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE

Science (New York, N.Y.), 2021

doi:10.1126/science.abf7117.

Versatile workflow for cell-type resolved transcriptional and epigenetic profiles from cryopreserved human lung.

Llamazares Prada M, Espinet E, Mijošek V, Schwartz U, Lutsik P, Tamas R, Richter M, Behrendt A, Pohl ST, Benz NP, Muley T, Warth A, Heußel CP, Winter H, Landry JJM, Herth FJ, Mertens TC, Karmouty-Quintana H, Koch I, Benes V, Korbel JO, Waszak SM, Trumpp A, Wyatt DM, Stahl HF, Plass C, Jurkowska RZ

JCI insight, 2021

doi:10.1172/jci.insight.140443.

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.

Salgado D, Armean IM, Baudis M, Beltran S, Capella-Gutierrez S, Carvalho-Silva D, Dominguez Del Angel V, Dopazo J, Furlong LI, Gao B, Garcia L, Gerloff D, Gut I, Gyenesei A, Habermann N, Hancock JM, Hanauer M, Hovig E, Johansson LF, Keane T, Korbel J, Lauer KB, Laurie S, Leskošek B, Lloyd D, Marques-Bonet T, Mei H, Monostory K, Piñero J, Poterlowicz K, Rath A, Samarakoon P, Sanz F, Saunders G, Sie D, Swertz MA, Tsukanov K, Valencia A, Vidak M, Yenyxe González C, Ylstra B, Béroud C

F1000Research, 2020

doi:10.12688/f1000research.24887.1.

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility.

Warren WC, Harris RA, Haukness M, Fiddes IT, Murali SC, Fernandes J, Dishuck PC, Storer JM, Raveendran M, Hillier LW, Porubsky D, Mao Y, Gordon D, Vollger MR, Lewis AP, Munson KM, DeVogelaere E, Armstrong J, Diekhans M, Walker JA, Tomlinson C, Graves-Lindsay TA, Kremitzki M, Salama SR, Audano PA, Escalona M, Maurer NW, Antonacci F, Mercuri L, Maggiolini FAM, Catacchio CR, Underwood JG, O'Connor DH, Sanders AD, Korbel JO, Ferguson B, Kubisch HM, Picker L, Kalin NH, Rosene D, Levine J, Abbott DH, Gray SB, Sanchez MM, Kovacs-Balint ZA, Kemnitz JW, Thomasy SM, Roberts JA, Kinnally EL, Capitanio JP, Skene JHP, Platt M, Cole SA, Green RE, Ventura M, Wiseman RW, Paten B, Batzer MA, Rogers J, Eichler EE

Science (New York, N.Y.), 2020

doi:10.1126/science.abc6617.

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.

Porubsky D, Ebert P, Audano PA, Vollger MR, Harvey WT, Marijon P, Ebler J, Munson KM, Sorensen M, Sulovari A, Haukness M, Ghareghani M, Human Genome Structural Variation Consortium, Lansdorp PM, Paten B, Devine SE, Sanders AD, Lee C, Chaisson MJP, Korbel JO, Eichler EE, Marschall T

Nature biotechnology, 2020

doi:10.1038/s41587-020-0719-5.

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.

Maggiolini FAM, Sanders AD, Shew CJ, Sulovari A, Mao Y, Puig M, Catacchio CR, Dellino M, Palmisano D, Mercuri L, Bitonto M, Porubský D, Cáceres M, Eichler EE, Ventura M, Dennis MY, Korbel JO, Antonacci F

Genome research, 2020

doi:10.1101/gr.265322.120.

TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data.

Bolognini D, Magi A, Benes V, Korbel JO, Rausch T

GigaScience, 2020

doi:10.1093/gigascience/giaa101.

Life time and improving European healthcare through cell-based interceptive medicine.

Rajewsky N, Almouzni G, Gorski SA, Aerts S, Amit I, Bertero MG, Bock C, Bredenoord AL, Cavalli G, Chiocca S, Clevers H, De Strooper B, Eggert A, Ellenberg J, Fernández XM, Figlerowicz M, Gasser SM, Hubner N, Kjems J, Knoblich JA, Krabbe G, Lichter P, Linnarsson S, Marine JC, Marioni J, Marti-Renom MA, Netea MG, Nickel D, Nollmann M, Novak HR, Parkinson H, Piccolo S, Pinheiro I, Pombo A, Popp C, Reik W, Roman-Roman S, Rosenstiel P, Schultze JL, Stegle O, Tanay A, Testa G, Thanos D, Theis FJ, Torres-Padilla ME, Valencia A, Vallot C, van Oudenaarden A, Vidal M, Voet T

Nature, 2020

doi:10.1038/s41586-020-2715-9.

A scalable CRISPR/Cas9-based fluorescent reporter assay to study DNA double-strand break repair choice.

Roidos P, Sungalee S, Benfatto S, Serçin Ö, Stütz AM, Abdollahi A, Mauer J, Zenke FT, Korbel JO, Mardin BR

Nature communications, 2020

doi:10.1038/s41467-020-17962-3.

Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors.

Erarslan-Uysal B, Kunz JB, Rausch T, Richter-Pechańska P, van Belzen IA, Frismantas V, Bornhauser B, Ordoñez-Rueada D, Paulsen M, Benes V, Stanulla M, Schrappe M, Cario G, Escherich G, Bakharevich K, Kirschner-Schwabe R, Eckert C, Loukanov T, Gorenflo M, Waszak SM, Bourquin JP, Muckenthaler MU, Korbel JO, Kulozik AE

EMBO molecular medicine, 2020

doi:10.15252/emmm.202012104.

Recurrent inversion toggling and great ape genome evolution.

Porubsky D, Sanders AD, Höps W, Hsieh P, Sulovari A, Li R, Mercuri L, Sorensen M, Murali SC, Gordon D, Cantsilieris S, Pollen AA, Ventura M, Antonacci F, Marschall T, Korbel JO, Eichler EE

Nature genetics, 2020

doi:10.1038/s41588-020-0646-x.

Effects of the COVID-19 pandemic on life scientists.

Korbel JO, Stegle O

Genome biology, 2020

doi:10.1186/s13059-020-02031-1.

Targeted Perturb-seq enables genome-scale genetic screens in single cells.

Schraivogel D, Gschwind AR, Milbank JH, Leonce DR, Jakob P, Mathur L, Korbel JO, Merten CA, Velten L, Steinmetz LM

Nature methods, 2020

doi:10.1038/s41592-020-0837-5.

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM

Nature, 2020

doi:10.1038/s41586-020-2164-5.

Publisher Correction: comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.

Cortés-Ciriano I, Lee JJ, Xi R, Jain D, Jung YL, Yang L, Gordenin D, Klimczak LJ, Zhang CZ, Pellman DS, PCAWG Structural Variation Working Group, Park PJ, PCAWG Consortium

Nature genetics, 2020

doi:10.1038/s41588-020-0634-1.

Genome-wide screens implicate loss of cullin ring ligase 3 in persistent proliferation and genome instability in TP53-deficient cells.

Drainas AP, Lambuta RA, Ivanova I, Serçin Ö, Sarropoulos I, Smith ML, Efthymiopoulos T, Raeder B, Stütz AM, Waszak SM, Mardin BR, Korbel JO

Cell reports, 2020

doi:10.1016/j.celrep.2020.03.029.

Genomics: data sharing needs an international code of conduct.

Phillips M, Molnár-Gábor F, Korbel JO, Thorogood A, Joly Y, Chalmers D, Townend D, Knoppers BM

Nature, 2020

doi:10.1038/d41586-020-00082-9.

Genomic basis for RNA alterations in cancer.

PCAWG Transcriptome Core Group, Calabrese C, Davidson NR, Demircioğlu D, Fonseca NA, He Y, Kahles A, Lehmann KV, Liu F, Shiraishi Y, Soulette CM, Urban L, Greger L, Li S, Liu D, Perry MD, Xiang Q, Zhang F, Zhang J, Bailey P, Erkek S, Hoadley KA, Hou Y, Huska MR, Kilpinen H, Korbel JO, Marin MG, Markowski J, Nandi T, Pan-Hammarström Q, Pedamallu CS, Siebert R, Stark SG, Su H, Tan P, Waszak SM, Yung C, Zhu S, Awadalla P, Creighton CJ, Meyerson M, Ouellette BFF, Wu K, Yang H; PCAWG Transcriptome Working Group, Brazma A, Brooks AN, Göke J, Rätsch G, Schwarz RF, Stegle O, Zhang Z; PCAWG Consortium

Nature, 2020

doi:10.1038/s41586-020-1970-0.

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.

Rheinbay E, Nielsen MM, Abascal F, Wala JA, Shapira O, Tiao G, Hornshøj H, Hess JM, Juul RI, Lin Z, Feuerbach L, Sabarinathan R, Madsen T, Kim J, Mularoni L, Lanzós A, Shuai S, Maruvka YE, Herrmann C, Amin SB, Shen C, Bertl J, Bandopadhayay P, Busanovich J, Boroevich KA, Chakravarty D, Carlevaro-Fita J, Craft D, Chan CWY, Diamanti K, Dhingra P, Guo Q, Hamilton MP, Fonseca NA, Gonzalez-Perez A, Isaev K, Johnson TA, Haradhvala NJ, Hong C, Kahraman A, Kim Y, Juul M, Kahles A, Kumar S, Lee D, Komorowski J, Kumar K, Lochovsky L, Liu EM, Li Y, Lehmann KV, Saksena G, Roberts ND, Pich O, Park K, Sinnott-Armstrong N, Sieverling L, Sidiropoulos N, Schumacher SE, Umer HM, Tubio JMC, Tamborero D, Stewart C, Zhang CZ, Zhang J, Haber JE, Hobolth A, Uusküla-Reimand L, Wadelius C, Wadi L, Yao X, Nakagawa H, Raphael BJ, Rubin MA, Sander C, Stein LD, Stuart JM, Tsunoda T, Wheeler DA, Johnson R, Reimand J, Gerstein M, Khurana E, Campbell PJ, López-Bigas N; PCAWG Drivers and Functional Interpretation Working Group; PCAWG Structural Variation Working Group, Weischenfeldt J, Beroukhim R, Martincorena I, Pedersen JS, Getz G; PCAWG Consortium

Nature, 2020

doi:10.1038/s41586-020-1965-x.

Patterns of somatic structural variation in human cancer genomes.

Li Y, Roberts ND, Wala JA, Shapira O, Schumacher SE, Kumar K, Khurana E, Waszak S, Korbel JO, Haber JE, Imielinski M, Imielinski M, Weischenfeldt J, Beroukhim R, Campbell PJ, Campbell PJ

Nature, 2023

doi:10.1038/s41586-019-1913-9.

Towards a European health research and innovation cloud (HRIC).

Aarestrup FM, Albeyatti A, Armitage WJ, Auffray C, Augello L, Balling R, Benhabiles N, Bertolini G, Bjaalie JG, Black M, Blomberg N, Bogaert P, Bubak M, Claerhout B, Clarke L, D'Errico G, De Meulder B, Forgo N, Di Meglio A, Gray AE, Gans-Combe C, Gyllenberg A, Gut I, Hjorth L, Hemmrich-Stanisak G, Jarmalaite S, Ioannidis Y, Kherif F, Kel A, Larue C, Korbel JO, Magalhaes L, Manneh-Vangramberen I, Laszlo M, Maas A, Oksvold P, Oxtoby NP, Morley-Fletcher E, Ohmann C, Riess O, Riper H, Perseil I, Pezoulas V, Sabatier P, Sanz F, Roca J, Rosenstiel P, Van den Bulcke M, Van Bussel J, Thomassen G, Tayeb M, Van Oyen H

Genome medicine, 2020

doi:10.1186/s13073-020-0713-z.

Genomic data sharing in Europe is stumbling-Could a code of conduct prevent its fall?

Molnár-Gábor F, Korbel JO

EMBO molecular medicine, 2020

doi:10.15252/emmm.201911421.

Eleven grand challenges in single-cell data science.

Lähnemann D, Köster J, Szczurek E, McCarthy DJ, Hicks SC, Robinson MD, Vallejos CA, Campbell KR, Beerenwinkel N, Mahfouz A, Pinello L, Skums P, Stamatakis A, Attolini CS, Aparicio S, Balvert M, Baaijens J, Cappuccio A, Barbanson B, Dutilh BE, Corleone G, Guryev V, Florescu M, Jahn K, Holmer R, Keizer EM, Lobo TJ, Kielbasa SM, Khatri I, Kozlov AM, Korbel JO, Mandoiu II, Marioni JC, Kuo TH, Lelieveldt BPF, Niknejad A, Raczkowski L, Marschall T, Mölder F, Saliba AE, Somarakis A, Reinders M, Ridder J, Yang H, Zelikovsky A, Stegle O, Theis FJ, Schönhuth A, Shah SP, Raphael BJ, McHardy AC

Genome biology, 2020

doi:10.1186/s13059-020-1926-6.

Acquisition of chromosome instability is a mechanism to evade oncogene addiction.

Salgueiro L, Buccitelli C, Rowald K, Somogyi K, Kandala S, Korbel JO, Sotillo R

EMBO molecular medicine, 2020

doi:10.15252/emmm.201910941.

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir KC, Le VTT, Chandran S, Li YL, Verhaak RG, Beroukhim R, Campbell PJ, Chin L, Dixon JR, Futreal PA, Alvarez EG, Baez-Ortega A, Beroukhim R, Boutros PC, Bowtell DDL, Brors B, Burns KH, Chan K, Chen K, Cortes-Ciriano I, Dueso-Barroso A, Dunford AJ, Edwards PA, Estivill X, Etemadmoghadam D, Feuerbach L, Fink JL, Frenkel-Morgenstern M, Garsed DW, Gerstein M, Gordenin DA, Haan D, Haber JE, Hess JM, Hutter B, Imielinski M, Jones DTW, Ju YS, Kazanov MD, Klimczak LJ, Koh Y, Korbel JO, Kumar K, Lee EA, Lee JJK, Lynch AG, Macintyre G, Markowetz F, Martincorena I, Martinez-Fundichely A, Meyerson M, Miyano S, Nakagawa H, Navarro FCP, Ossowski S, Park PJ, Pearson JV, Puiggros M, Rippe K, Roberts ND, Roberts SA, Rodriguez-Martin B, Schumacher SE, Scully R, Shackleton M, Sidiropoulos N, Sieverling L, Stewart C, Torrents D, Tubio JMC, Villasante I, Waddell N, Wala JA, Weischenfeldt J, Yang LX, Yao XT, Yoon SS, Zamora J, Zhang CZ

NATURE GENETICS, 2020

doi:10.1038/s41588-019-0564-y.

Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis.

Carlevaro-Fita J, Lanzos A, Feuerbach L, Hong C, Mas-Ponte D, Pedersen JS, Johnson R, Abascal F, Amin SB, Bader GD, Barenboim J, Beroukhim R, Bertl J, Boroevich KA, Brunak S, Campbell PJ, Carlevaro-Fita J, Chakravarty D, Chan CWY, Chen K, Choi JK, Deu-Pons J, Dhingra P, Diamanti K, Feuerbach L, Fink JL, Fonseca NA, Frigola J, Gambacorti-Passerini C, Garsed DW, Gerstein M, Getz G, Gonzalez-Perez A, Guo QY, Gut IG, Haan D, Hamilton MP, Haradhvala NJ, Harmanci AO, Helmy M, Herrmann C, Hess JM, Hobolth A, Hodzic E, Hong C, Hornshoj H, Isaev K, Izarzugaza JMG, Johnson TA, Juul M, Juul RI, Kahles A, Kahraman A, Kellis M, Khurana E, Kim J, Kim JK, Kim Y, Komorowski J, Korbel JO, Kumar S, Lanzos A, Larsson E, Lawrence MS, Lee D, Lehmann KV, Li ST, Li XT, Lin Z, Liu EM, Lochovsky L, Lou SK, Madsen T, Marchal K, Martincorena I, Martinez-Fundichely A, Maruvka YE, McGillivray PD, Meyerson W, Muinos F, Mularoni L, Nakagawa H, Nielsen MM, Paczkowska M, Park K, Park K, Pedersen JS, Pich O, Pons T, Pulido-Tamayo S, Raphael BJ, Reimand J, Reyes-Salazar I, Reyna MA, Rheinbay E, Rubin MA, Rubio-Perez C, Sabarinathan R, Sahinalp SC, Saksena G, Salichos L, Sander C, Schumacher SE, Shackleton M, Shapira O, Shen CY, Shrestha R, Shuai SM, Sidiropoulos N, Sieverling L, Sinnott-Armstrong N, Stein LD, Stuart JM, Tamborero D, Tiao GC, Tsunoda T, Umer HM, Uuskula-Reimand L, Valencia A, Vazquez M, Verbeke LPC, Wadelius C, Wadi L, Wang JY, Warrell J, Waszak SM, Weischenfeldt J, Wheeler DA, Wu GM, Yu J, Zhang J, Zhang XP, Zhang Y, Zhao ZM, Zou LH, von Mering C

COMMUNICATIONS BIOLOGY, 2020

doi:10.1038/s42003-019-0741-7.

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.

Cortés-Ciriano I, Lee JJ, Xi R, Jain D, Jung YL, Yang L, Gordenin D, Klimczak LJ, Zhang CZ, Pellman DS, PCAWG Structural Variation Working Group, Park PJ, PCAWG Consortium

Nature genetics, 2020

doi:10.1038/s41588-019-0576-7.

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.

Rodriguez-Martin B, Alvarez EG, Baez-Ortega A, Zamora J, Supek F, Demeulemeester J, Santamarina M, Ju YS, Temes J, Garcia-Souto D, Detering H, Li Y, Rodriguez-Castro J, Dueso-Barroso A, Bruzos AL, Blanco MG, Dentro SC, Ardeljan D, Contino G, Roberts ND, Tojo M, Edwards PAW, Zumalave S, Puiggròs M, Weischenfeldt J, Chen K, Chong Z, Wala JA, Lee EA, Butler A, Raine K, Schumacher SE, Monlong J, Waszak SM, Navarro FCP, Bourque G, Gerstein M, Maura F, Bolli N, Beroukhim R, Torrents D, Park PJ, Wedge DC, Fitzgerald RC, Van Loo P, Korbel JO, Martincorena I, Campbell PJ, PCAWG Structural Variation Working Group, Burns KH, Kazazian HH, Tubio JMC, PCAWG Consortium

Nature genetics, 2020

doi:10.1038/s41588-019-0562-0.

Butler enables rapid cloud-based analysis of thousands of human genomes.

Yakneen S, Waszak SM, PCAWG Technical Working Group, Gertz M, Korbel JO, PCAWG Consortium

Nature biotechnology, 2020

doi:10.1038/s41587-019-0360-3.

Publisher Correction: Butler enables rapid cloud-based analysis of thousands of human genomes.

Yakneen S, Waszak SM, PCAWG Technical Working Group, Gertz M, Korbel JO; PCAWG Consortium

Nature biotechnology, 2020

doi:10.1038/s41587-020-0448-9.

The effects of common structural variants on 3D chromatin structure.

Shanta O, Noor A, Sebat J, Chaisson MJP, Sanders AD, Zhao XF, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong XM, Hormozdiari F, Lee DL, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen XT, Chin CS, Chong ZC, Chuang NST, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeey T, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee JC, Lee WP, Lee SP, Li ST, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Rosanio G, Ryan M, Stutz A, Spierings DCJ, Ward A, Welch AME, Xiao M, Xu W, Zhang CS, Zhu QH, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Shi XH, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee CL

BMC GENOMICS, 2020

doi:10.1186/s12864-020-6516-1.

Germline GPR161 mutations predispose to pediatric medulloblastoma.

Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Korbel JO, Sahm F, Eggermann T, Rutkowski S, Northcott P, Gajjar A, Pfister SM, Elbracht M, Kurth I, Kontny U

Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2019

doi:10.1200/JCO.19.00577.

Single-cell analysis of structural variations and complex rearrangements with tri-channel processing.

Sanders AD, Meiers S, Ghareghani M, Porubsky D, Jeong H, van Vliet MACC, Rausch T, Richter-Pechańska P, Kunz JB, Jenni S, Bolognini D, Longo GMC, Raeder B, Kinanen V, Zimmermann J, Schrappe M, Benes V, Kulozik AE, Mardin BR, Bourquin JP, Bornhauser B, Korbel JO, Marschall T

Nature biotechnology, 2019

doi:10.1038/s41587-019-0366-x.

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S, Gröbner SN, Rausch T, Waszak SM, Schmidt C, Gorthi A, Romero JC, Mauermann M, Brabetz S, Krausert S, Buchhalter I, Koster J, Zwijnenburg DA, Sill M, Hübner JM, Schwalm B, Mack N, Hovestadt V, Ryzhova M, Chan JA, Papillon-Cavanagh S, Ho B, Landgraf P, Witt O, Milde T, Sahm F, Ecker J, Ellison DW, Sumerauer D, Darabi A, Orr BA, Wesseling P, Schittenhelm J, Haberler C, Figarella-Branger D, Gil-da-Costa MJ, Łastowska M, Remke M, Taylor MD, Hauser P, Pietsch T, Grajkowska W, Hasselblatt M, Masliah-Planchon J, Rigau V, Uro-Coste E, Bourdeaut F, Schüller U, Li XN, Wolf S, Alexandrescu S, Jabado N, Giangaspero F, Karajannis MA, Snuderl M, von Hoff K, Korbel JO, Jones DTW, von Deimling A, Pfister SM, Bishop AJR, Huang A, Lichter P, Korshunov A, Kool M

Nature, 2019

doi:10.1038/s41586-019-1815-x.

Human-specific tandem repeat expansion and differential gene expression during primate evolution.

Sulovari A, Li R, Audano PA, Porubsky D, Vollger MR, Logsdon GA, Logsdon GA, Warren WC, Pollen AA, Chaisson MJP, Eichler EE

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2019

doi:10.1073/pnas.1912175116.

The NSL complex maintains nuclear architecture stability via lamin A/C acetylation.

Karoutas A, Szymanski W, Rausch T, Guhathakurta S, Rog-Zielinska EA, Peyronnet R, Seyfferth J, Chen HR, de Leeuw R, Herquel B, Kimura H, Mittler G, Kohl P, Medalia O, Korbel JO, Akhtar A

Nature cell biology, 2019

doi:10.1038/s41556-019-0397-z.

VISOR: a versatile haplotype-aware structural variant simulator for short and long read sequencing.

Bolognini D, Sanders A, Korbel JO, Magi A, Benes V, Rausch T

Bioinformatics (Oxford, England), 2019

doi:10.1093/bioinformatics/btz719.

Author Correction: leveraging European infrastructures to access 1 million human genomes by 2022.

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Holub P, Heringa J, Juty N, Hooyberghs J, Korbel JO, Keane TM, Leskosek B, Lappalainen I, Mayrhofer MT, Matthijs G, Navarro A, Metspalu A, Nyrönen T, Newhouse S, Persson B, Page A, Rambla J, Salgado D, Palotie A, Parkinson H, Valencia A, Varma S, Steinfelder E, Swertz MA, Blomberg N, Scollen S

Nature reviews. Genetics, 2019

doi:10.1038/s41576-019-0178-3.

Leveraging European infrastructures to access 1 million human genomes by 2022.

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Holub P, Heringa J, Juty N, Hooyberghs J, Korbel JO, Keane TM, Leskosek B, Lappalainen I, Mayrhofer MT, Matthijs G, Navarro A, Metspalu A, Nyrönen T, Newhouse S, Persson B, Page A, Rambla J, Salgado D, Palotie A, Parkinson H, Valencia A, Varma S, Steinfelder E, Swertz MA, Blomberg N, Scollen S

Nature reviews. Genetics, 2019

doi:10.1038/s41576-019-0156-9.

Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression.

Ghavi-Helm Y, Jankowski A, Meiers S, Viales RR, Korbel JO, Furlong EEM

Nature genetics, 2019

doi:10.1038/s41588-019-0462-3.

Multi-platform discovery of haplotype-resolved structural variation in human genomes.

Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Hormozdiari F, Kong X, Wenger AM, Lee D, Antaki D, Hastie AR, Audano PA, Anantharaman T, Cantsilieris S, Brand H, Cerveira E, Cao H, Chen X, Chen C, Chong Z, Chin CS, Church DM, Clarke L, Chuang NT, Lambert CC, Galeev T, Gorkin DU, Farrell A, Flores J, Heaton WH, Korlach J, Gujral M, Guryev V, Lam ET, Lee JE, Kumar S, Kwon JY, Li S, Lee SP, Lee WP, Lee J, Munson KM, Meiers S, Viaud-Martinez K, Marks P, Noor A, Nodzak C, Nelson BJ, Navarro FCP, Rosanio G, Qiu Y, Pang AWC, Kyriazopoulou-Panagiotopoulou S, Welch AE, Xiao M, Xu W, Zhang C, Ryan M, Stütz A, Spierings DCJ, Ward A, McCarroll S, Jun G, Ding L, Koh CL, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, Lansdorp PM, Kwok PY, Sebat J, Marth GT, Flicek P, Ren B, Gerstein MB, Chen K, Mills RE, Talkowski ME, Korbel JO, Marschall T, Bashir A, Shi X, Devine SE, Ye K, Eichler EE, Lee C

Nature communications, 2019

doi:10.1038/s41467-018-08148-z.

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.

López C, Kleinheinz K, Aukema SM, Rohde M, Bernhart SH, Hübschmann D, Wagener R, Toprak UH, Raimondi F, Kreuz M, Waszak SM, Huang Z, Sieverling L, Paramasivam N, Seufert J, Russell RB, Sungalee S, Kretzmer H, Bausinger J, Bergmann AK, Ammerpohl O, Borkhardt A, Binder H, Claviez A, Brors B, Feuerbach L, Doose G, Hansmann ML, Haake A, Hummel M, Hoell J, Lenze D, Radlwimmer B, Korbel JO, Lawerenz C, Rosenwald A, Schilhabel MB, Richter J, Rosenstiel P, Stadler PF, Szczepanowski M, Stein H, Stilgenbauer S, Eils R, Lichter P, Weniger MA, Zapatka M, Klapper W, Trümper L, Möller P, Loeffler M, Burkhardt B, Küppers R, Hoffmann S, Klapper W, Siebert R, Schlesner M

Nature communications, 2019

doi:10.1038/s41467-019-08578-3.

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Lipinski S, Petersen BS, Barann M, Piecyk A, Tran F, Mayr G, Jentzsch M, Aden K, Stengel ST, Klostermeier UC, Sheth V, Ellinghaus D, Rausch T, Korbel JO, Nothnagel M, Gilissen C, Krawczak M, Forster M, Veltman JA, Lee CC, Forster P, Schreiber S, Fritscher-Ravens A, Rosenstiel P, Franke A

Cold Spring Harbor molecular case studies, 2019

doi:10.1101/mcs.a002428.

InTAD: chromosome conformation guided analysis of enhancer target genes.

Okonechnikov K, Erkek S, Korbel JO, Pfister SM, Chavez L

BMC bioinformatics, 2019

doi:10.1186/s12859-019-2655-2.

Enriched power of disease-concordant twin-case-only design in detecting interactions in genome-wide association studies.

Li W, Baumbach J, Mohammadnejad A, Brasch-Andersen C, Vandin F, Korbel JO, Tan Q

European journal of human genetics : EJHG, 2019

doi:10.1038/s41431-018-0320-2.

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia.

Richter-Pechańska P, Kunz JB, Bornhauser B, von Knebel Doeberitz C, Rausch T, Erarslan-Uysal B, Assenov Y, Frismantas V, Marovca B, Waszak SM, Zimmermann M, Seemann J, Happich M, Stanulla M, Schrappe M, Escherich G, Cario G, Kirschner-Schwabe R, Bakharevich K, Muckenthaler MU, Eckert C, Bourquin JP, Korbel JO, Kulozik AE

EMBO molecular medicine, 2018

doi:10.15252/emmm.201809443.

Comprehensive analysis of chromatin states in atypical teratoid/rhabdoid tumor identifies diverging roles for SWI/SNF and polycomb in gene regulation.

Erkek S, Johann PD, Finetti MA, Drosos Y, Chou HC, Zapatka M, Sturm D, Jones DTW, Korshunov A, Rhyzova M, Wolf S, Mallm JP, Beck K, Witt O, Kulozik AE, Northcott PA, Frühwald MC, Lichter P, Korbel JO, Gajjar A, Eils R, Williamson D, Roberts CWM, Chavez L, Hasselblatt M, Kool M, Pfister SM

Cancer cell, 2018

doi:10.1016/j.ccell.2018.11.014.

Molecular evolution of early-onset prostate cancer identifies molecular risk markers and clinical trajectories.

Gerhauser C, Favero F, Risch T, Simon R, Feuerbach L, Assenov Y, Heckmann D, Sidiropoulos N, Waszak SM, Hübschmann D, Urbanucci A, Girma EG, Kuryshev V, Klimczak LJ, Saini N, Weichenhan D, Stütz AM, Toth R, Böttcher LM, Koop C, Hendriksen JD, Matzk S, Lutsik P, Amstislavskiy V, Warnatz HJ, Raeder B, Feuerstein C, Schmitz EM, Bogatyrova O, Kluth M, Hube-Magg C, Lawerenz C, Henry GH, Huland H, Graefen M, Meiners J, Schilling D, Yamaguchi TN, Malewska A, Schlesner M, Strand DW, Reisinger E, Eils R, von Kalle C, Gordenin D, Bristow RG, Boutros PC, Plass C, Sauter G, Brors B, Sültmann H, Yaspo ML, Korbel JO, Schlomm T, Weischenfeldt J

Cancer cell, 2018

doi:10.1016/j.ccell.2018.10.016.

Alfred: Interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing.

Rausch T, Fritz MH, Korbel JO, Benes V

Bioinformatics (Oxford, England), 2018

doi:10.1093/bioinformatics/bty1007.

Chromatin modifiers Mdm2 and RNF2 prevent RNA:DNA hybrids that impair DNA replication.

Klusmann I, Wohlberedt K, Magerhans A, Teloni F, Korbel JO, Altmeyer M, Dobbelstein M

Proceedings of the National Academy of Sciences of the United States of America, 2018

doi:10.1073/pnas.1809592115.

Strand-seq enables reliable separation of long reads by chromosome via expectation maximization.

Ghareghani M, Porubsk D, Sanders AD, Meiers S, Eichler EE, Korbel JO, Marschall T

Bioinformatics (Oxford, England), 2018

doi:10.1093/bioinformatics/bty290.

Author Correction: The landscape of genomic alterations across childhood cancers.

Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Heinold M, Zipprich G, Lawerenz C, Eils J, Lambo S, Erkek S, Blattmann C, Waszak S, Kuhlen M, Borkhardt A, Fulda S, Eggert A, Wegert J, Gessler M, Baumhoer D, Kappler R, Kontny U, Kulozik AE, Burdach S, Kirschner-Schwabe R, Eckert C, Bielack S, Lohmann D, Hettmer S, Richter GH, Schulte J, Nathrath M, Niemeyer C, Molenaar JJ, Vassal G, Siebert R, Westermann F, Witt O, Kratz CP, Burkhardt B, Witt H, Dirksen U, Fleischhack G, Kramm CM, van Tilburg CM, Wolf S, von Hoff K, Frühwald M, Rutkowski S, Koster J, Landgraf P, Koscielniak E, Klingebiel T, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Resnick AC, Zhang J, Liu Y, Zhou X, Piro RM, Korbel JO, Schlesner M, Eils R, Weber UD, Northcott PA, Pajtler KW, Kool M, Lichter P, Pfister SM, Eils R, Weber U, Lichter P, Jones DTW, Zapatka M, Chavez L, von Kalle C, Felsberg J, Bartholomä C, Schmidt M, Witt O, Korshunov A, Reifenberger G, Pfister S, Korbel J, Stütz A, Jäger N, Buchhalter I, Jones D, Lichter P, Taylor M, Pfister S, Borkhardt A, Brors B, Warnatz HJ, Landgraf P, Yaspo ML, Lehrach H, Rausch T, Radlwimmer B, Haake A, Wagner S, Siebert R, Lawerenz C, Eils J, Eils R, Eils R, Zapatka M, Scholz I, Jaeger-Schmidt C, Kerssemakers J, Eils J, Lawerenz C, Eils R, Richter G, Richter J, Hansmann ML, Haas S, Kneba M, Karsch D, Mantovani-Löffler L, Lisfeld J, Ott G, Rohde M, Borst C, Bergmann AK, Claviez A, Burkhardt B, Eberth S, Dreyling M, Frickhofen N, Einsele H, Weniger M, Hummel M, Klapper W, Kostezka U, Lenze D, Möller P, Rosenwald A, Ott G, Stadler C, Staib P, Stilgenbauer S, Trümper L, Zenz T, Hansmann ML, Kube D, Küppers R, Pischimariov J, Nagel I, López C, Lichter P, Rosenwald A, Rosenstiel P, Richter J, Radlwimmer B, Binder V, Aukema SM, Ammerpohl O, Szczepanowski M, Leich E, Hoell JI, Haake A, Borkhardt A, Hoffmann S, Hopp L, Doose G, Eils R, Kretzmer H, Kreuz M, Hübschmann D, Kleinheinz K, Vater I, Wagener R, Schilhabel M, Schreiber S, Binder H, Brors B, Siebert R, Bernhart SH, Stadler PF, Schlesner M, Langenberger D, Korbel J, Rosolowski M, Loeffler M, Sungalee S

Nature, 2018

doi:10.1038/s41586-018-0167-2.

Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial.

Robinson GW, Rudneva VA, Buchhalter I, Billups CA, Waszak SM, Smith KS, Bowers DC, Bendel A, Fisher PG, Partap S, Crawford JR, Hassall T, Indelicato DJ, Boop F, Klimo P, Sabin ND, Patay Z, Merchant TE, Stewart CF, Orr BA, Korbel JO, Jones DTW, Sharma T, Lichter P, Kool M, Korshunov A, Pfister SM, Gilbertson RJ, Sanders RP, Onar-Thomas A, Ellison DW, Gajjar A, Northcott PA

The Lancet. Oncology, 2018

doi:10.1016/S1470-2045(18)30204-3.

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K, Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernáiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM

The Lancet. Oncology, 2018

doi:10.1016/S1470-2045(18)30242-0.

The landscape of genomic alterations across childhood cancers.

Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H, Witt H, Witt H, Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM

Nature, 2018

doi:10.1038/nature25480.

Computational pan-genomics: status, promises and challenges.

Computational Pan-Genomics Consortium

Briefings in bioinformatics, 2018

doi:10.1093/bib/bbw089.

Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy.

Haas J, Mester S, Lai A, Frese KS, Sedaghat-Hamedani F, Kayvanpour E, Rausch T, Nietsch R, Boeckel JN, Carstensen A, Völkers M, Dietrich C, Pils D, Amr A, Holzer DB, Martins Bordalo D, Oehler D, Weis T, Mereles D, Buss S, Riechert E, Wirsz E, Wuerstle M, Korbel JO, Keller A, Katus HA, Posch AE, Meder B

EMBO molecular medicine, 2017

doi:10.15252/emmm.201707838.

Deletion lengthening at chromosomes 6q and 16q targets multiple tumor suppressor genes and is associated with an increasingly poor prognosis in prostate cancer.

Kluth M, Jung S, Habib O, Eshagzaiy M, Heinl A, Amschler N, Masser S, Mader M, Runte F, Barow P, Frogh S, Omari J, Möller-Koop C, Hube-Magg C, Weischenfeldt J, Korbel J, Steurer S, Krech T, Huland H, Graefen M, Minner S, Sauter G, Schlomm T, Simon R

Oncotarget, 2017

doi:10.18632/oncotarget.22408.

Dense and accurate whole-chromosome haplotyping of individual genomes.

Porubsky D, Garg S, Sanders AD, Korbel JO, Guryev V, Lansdorp PM, Marschall T

Nature communications, 2017

doi:10.1038/s41467-017-01389-4.

Systematic Identification of Determinants for Single Strand Annealing Mediated Deletion Formation in Saccharomyces cerevisiae.

Segura-Wang M, Onishi-Seebacher M, Stütz AM, Mardin BR, Korbel JO

G3 (Bethesda, Md.), 2017

doi:10.1534/g3.117.300165.

Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.

Ratnaparkhe M, Hlevnjak M, Kolb T, Jauch A, Maass KK, Devens F, Rode A, Hovestadt V, Korshunov A, Pastorczak A, Mlynarski W, Sungalee S, Korbel J, Hoell J, Fischer U, Milde T, Kramm C, Nathrath M, Chrzanowska K, Tausch E, Takagi M, Taga T, Constantini S, Loeffen J, Meijerink J, Zielen S, Gohring G, Schlegelberger B, Maass E, Siebert R, Kunz J, Kulozik AE, Worst B, Jones DT, Pfister SM, Zapatka M, Lichter P, Ernst A

Leukemia, 2017

doi:10.1038/leu.2017.55.

Mitochondrial mutations drive prostate cancer aggression.

Hopkins JF, Sabelnykova VY, Weischenfeldt J, Simon R, Aguiar JA, Alkallas R, Heisler LE, Zhang J, Watson JD, Chua MLK, Fraser M, Favero F, Lawerenz C, Plass C, Sauter G, McPherson JD, van der Kwast T, Korbel J, Schlomm T, Bristow RG, Boutros PC

Nature communications, 2017

doi:10.1038/s41467-017-00377-y.

Genomes of early onset prostate cancer.

Weischenfeldt J, Korbel JO

Current opinion in urology, 2017

doi:10.1097/MOU.0000000000000422.

The whole-genome landscape of medulloblastoma subtypes.

Northcott PA, Buchhalter I, Morrissy AS, Hovestadt V, Weischenfeldt J, Ehrenberger T, Gröbner S, Segura-Wang M, Zichner T, Rudneva VA, Warnatz HJ, Sidiropoulos N, Phillips AH, Schumacher S, Kleinheinz K, Waszak SM, Erkek S, Jones DTW, Worst BC, Kool M, Zapatka M, Jäger N, Chavez L, Hutter B, Bieg M, Paramasivam N, Heinold M, Gu Z, Ishaque N, Jäger-Schmidt C, Imbusch CD, Jugold A, Hübschmann D, Risch T, Amstislavskiy V, Gonzalez FGR, Weber UD, Wolf S, Robinson GW, Zhou X, Wu G, Finkelstein D, Liu Y, Cavalli FMG, Luu B, Ramaswamy V, Wu X, Koster J, Ryzhova M, Cho YJ, Pomeroy SL, Herold-Mende C, Schuhmann M, Ebinger M, Liau LM, Mora J, McLendon RE, Jabado N, Kumabe T, Chuah E, Ma Y, Moore RA, Mungall AJ, Mungall KL, Thiessen N, Tse K, Wong T, Jones SJM, Witt O, Milde T, Von Deimling A, Capper D, Korshunov A, Yaspo ML, Kriwacki R, Gajjar A, Zhang J, Beroukhim R, Fraenkel E, Korbel JO, Brors B, Schlesner M, Eils R, Marra MA, Pfister SM, Taylor MD, Lichter P

Nature, 2017

doi:10.1038/nature22973.

Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally

Molnar-Gabor F, Lueck R, Yakneen S, Korbel JO

Genome medicine, 2017

doi:10.1186/s13073-017-0449-6.

Pan-cancer analysis distinguishes transcriptional changes of aneuploidy from proliferation.

Buccitelli C, Salgueiro L, Rowald K, Sotillo R, Mardin BR, Korbel JO

Genome research, 2017

doi:10.1101/gr.212225.116.

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Richter-Pechańska P, Kunz JB, Hof J, Zimmermann M, Rausch T, Bandapalli OR, Orlova E, Scapinello G, Sagi JC, Stanulla M, Schrappe M, Cario G, Kirschner-Schwabe R, Eckert C, Benes V, Korbel JO, Muckenthaler MU, Kulozik AE

Blood Cancer Journal, 2017

doi:10.1038/bcj.2017.3.

Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking

Weischenfeldt J., Dubash T., Drainas A., Mardin B., Chen Y., Stütz A., Waszak S., Bosco G., Halvorsen A., Raeder B., Efthymiopoulos T., Erkek S., Siegl C., Brenner H., Brustugun O., Dieter S., Northcott P., Petersen I., Pfister S., Schneider M., Solberg S., Thunissen E., Weichert W., Zichner T., Thomas R., Peifer M., Helland A., Ball C., Jechlinger M., Sotillo R., Glimm H., Korbel J.

Nature Genetics, 2016

doi:10.1038/ng.3722.

Recurrent MET fusion genes represent a drug target in pediatric glioblastoma

Bender S, Gronych J, Warnatz HJ, Hutter B, Grobner S, Ryzhova M, Pfaff E, Hovestadt V, Weinberg F, Halbach S, Kool M, Northcott PA, Sturm D, Bjerke L, Zichner T, Stutz AM, Schramm K, Huang B, Buchhalter I, Heinold M, Risch T, Worst BC, van Tilburg CM, Weber UD, Zapatka M, Raeder B, Milford D, Heiland S, von Kalle C, Previti C, Lawerenz C, Kulozik AE, Unterberg A, Witt O, von Deimling A, Capper D, Truffaux N, Grill J, Jabado N, Sehested AM, Sumerauer D, Hmida-Ben Brahim D, Trabelsi S, Ng HK, Zagzag D, Allen JC, Karajannis MA, Gottardo NG, Jones C, Korbel J, Schmidt S, Wolf S, Reifenberger G, Felsberg J, Brors B, Herold-Mende C, Lehrach H, Brummer T, Korshunov A, Eils R, Yaspo ML, Pfister SM, Lichter P, Jones DTW

NATURE MEDICINE, 2016

doi:10.1038/nm.4204.

Alterations of microRNA and microRNA-regulated messenger RNA expression in germinal center B-cell lymphomas determined by integrative sequencing analysis.

Hezaveh K, Kloetgen A, Bernhart SH, Mahapatra KD, Lenze D, Richter J, Haake A, Bergmann AK, Brors B, Burkhardt B, Claviez A, Drexler HG, Eils R, Haas S, Hoffmann S, Karsch D, Klapper W, Kleinheinz K, Korbel J, Kretzmer H, Kreuz M, Küppers R, Lawerenz C, Leich E, Loeffler M, Mantovani-Loeffler L, López C, McHardy AC, Möller P, Rohde M, Rosenstiel P, Rosenwald A, Schilhabel M, Schlesner M, Scholz I, Stadler PF, Stilgenbauer S, Sungalee S, Szczepanowski M, Trümper L, Weniger MA, Siebert R, Borkhardt A, Hummel M, Hoell JI

Haematologica, 2016

doi:10.3324/haematol.2016.143891.

Genetic code expansion for multiprotein complex engineering.

Koehler C, Sauter PF, Wawryszyn M, Girona GE, Gupta K, Landry JJ, Fritz MH, Radic K, Hoffmann JE, Chen ZA, Zou J, Tan PS, Galik B, Junttila S, Stolt-Bergner P, Pruneri G, Gyenesei A, Schultz C, Biskup MB, Besir H, Benes V, Rappsilber J, Jechlinger M, Korbel JO, Berger I, Braese S, Lemke EA

Nature methods, 2016

doi:10.1038/nmeth.4032.

Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3)

Coccé M., Mardin B., Bens S., Stütz A., Lubieniecki F., Vater I., Korbel J., Siebert R., Alonso C., Gallego M.

Genes Chromosomes and Cancer, 2016

doi:10.1002/gcc.22369.

Heterogeneity of ERG expression in prostate cancer: a large section mapping study of entire prostatectomy specimens from 125 patients.

Tsourlakis MC, Stender A, Quaas A, Kluth M, Wittmer C, Haese A, Graefen M, Steurer S, Simon R, Korbel J, Weischenfeldt J, Huland H, Sauter G, Schlomm T, Minner S

BMC cancer, 2016

doi:10.1186/s12885-016-2674-6.

Using large-scale genome variation cohorts to decipher the molecular mechanism of cancer.

Habermann N, Mardin BR, Yakneen S, Korbel JO

Comptes rendus biologies, 2016

doi:10.1016/j.crvi.2016.05.008.

Negative Selection and Chromosome Instability Induced by Mad2 Overexpression Delay Breast Cancer but Facilitate Oncogene-Independent Outgrowth.

Rowald K, Mantovan M, Passos J, Buccitelli C, Mardin BR, Korbel JO, Jechlinger M, Sotillo R

Cell reports, 2016

doi:10.1016/j.celrep.2016.05.048.

Immortalization capacity of HPV types is inversely related to chromosomal instability.

Schütze DM, Krijgsman O, Snijders PJ, Ylstra B, Weischenfeldt J, Mardin BR, Stütz AM, Korbel JO, de Winter JP, Meijer CJ, Quint WG, Bosch L, Wilting SM, Steenbergen RD

Oncotarget, 2016

doi:10.18632/oncotarget.8058.

Next-generation sequencing-based detection of germline L1-mediated transductions.

Tica J, Lee E, Untergasser A, Meiers S, Garfield DA, Gokcumen O, Furlong EE, Park PJ, Stütz AM, Korbel JO

BMC genomics, 2016

doi:10.1186/s12864-016-2670-x.

Eine globale Initiative zur Erforschung von Krebserkrankungen: Das Pan-Cancer Analysis of Whole Genomes (PCAWG) Projekt.

Jan O. Korbel, Sergei Yakneen, Sebastian M Waszak, Matthias Schlesner, Roland Eils, Fruzsina Molnár-Gábor

2016

doi:.

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes.

Johann PD, Erkek S, Zapatka M, Kerl K, Buchhalter I, Hovestadt V, Jones DT, Sturm D, Hermann C, Segura Wang M, Korshunov A, Rhyzova M, Gröbner S, Brabetz S, Chavez L, Bens S, Gröschel S, Kratochwil F, Wittmann A, Sieber L, Geörg C, Wolf S, Beck K, Oyen F, Capper D, van Sluis P, Volckmann R, Koster J, Versteeg R, von Deimling A, Milde T, Witt O, Kulozik AE, Ebinger M, Shalaby T, Grotzer M, Sumerauer D, Zamecnik J, Mora J, Jabado N, Taylor MD, Huang A, Aronica E, Bertoni A, Radlwimmer B, Pietsch T, Schüller U, Schneppenheim R, Northcott PA, Korbel JO, Siebert R, Frühwald MC, Lichter P, Eils R, Gajjar A, Hasselblatt M, Pfister SM, Kool M

Cancer cell, 2016

doi:10.1016/j.ccell.2016.02.001.

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A, Witt O, Korbel JO, Lichter P, Schuhmann MU, Pfister SM, Tabori U, Mautner VF, Jones DT

Human genetics, 2016

doi:10.1007/s00439-016-1646-x.

Active medulloblastoma enhancers reveal subgroup-specific cellular origins.

Lin CY, Erkek S, Tong Y, Yin L, Federation AJ, Zapatka M, Haldipur P, Kawauchi D, Risch T, Warnatz HJ, Worst BC, Ju B, Orr BA, Zeid R, Polaski DR, Segura-Wang M, Waszak SM, Jones DT, Kool M, Hovestadt V, Buchhalter I, Sieber L, Johann P, Chavez L, Gröschel S, Ryzhova M, Korshunov A, Chen W, Chizhikov VV, Millen KJ, Amstislavskiy V, Lehrach H, Yaspo ML, Eils R, Lichter P, Korbel JO, Pfister SM, Bradner JE, Northcott PA

Nature, 2016

doi:10.1038/nature16546.

Shadow Enhancers Are Pervasive Features of Developmental Regulatory Networks.

Cannavò E, Khoueiry P, Garfield DA, Geeleher P, Zichner T, Gustafson EH, Ciglar L, Korbel JO, Furlong EE

Current biology : CB, 2015

doi:10.1016/j.cub.2015.11.034.

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

Gatz SA, Salles D, Jacobsen EM, Dörk T, Rausch T, Aydin S, Surowy H, Volcic M, Vogel W, Debatin KM, Stütz AM, Schwarz K, Pannicke U, Hess T, Korbel JO, Schulz AS, Schumacher J, Wiesmüller L

Human mutation, 2015

doi:10.1002/humu.22939.

Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Kovac M, Blattmann C, Ribi S, Smida J, Mueller NS, Engert F, Castro-Giner F, Weischenfeldt J, Kovacova M, Krieg A, Andreou D, Tunn PU, Dürr HR, Rechl H, Schaser KD, Melcher I, Burdach S, Kulozik A, Specht K, Heinimann K, Fulda S, Bielack S, Jundt G, Tomlinson I, Korbel JO, Nathrath M, Baumhoer D

Nature communications, 2015

doi:10.1038/ncomms9940.

A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition.

Stockklausner C, Raffel S, Klermund J, Bandapalli OR, Beier F, Brümmendorf TH, Bürger F, Sauer SW, Hoffmann GF, Lorenz H, Tagliaferri L, Nowak D, Hofmann WK, Buergermeister R, Kerber C, Rausch T, Korbel JO, Luke B, Trumpp A, Kulozik AE

Aging, 2015

doi:10.18632/aging.100835.

A global reference for human genetic variation.

1000 Genomes Project Consortium

Nature, 2015

doi:10.1038/nature15393.

Erratum: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.

Abyzov A, Li S, Kim DR, Mohiyuddin M, Stütz AM, Parrish NF, Mu XJ, Clark W, Chen K, Hurles M, Korbel JO, Lam HY, Lee C

Nature communications, 2015

doi:10.1038/ncomms9389.

An integrated map of structural variation in 2,504 human genomes.

Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, Chen J, Hormozdiari F, Dayama G, Chen K, Malig M, Chaisson MJ, Walter K, Meiers S, Kashin S, Garrison E, Auton A, Lam HY, Jasmine Mu X, Alkan C, Antaki D, Bae T, Cerveira E, Chines P, Chong Z, Clarke L, Dal E, Ding L, Emery S, Fan X, Gujral M, Kahveci F, Kidd JM, Kong Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Mason CE, Menelaou A, Muzny DM, Nelson BJ, Noor A, Parrish NF, Pendleton M, Quitadamo A, Raeder B, Schadt EE, Romanovitch M, Schlattl A, Sebra R, Shabalin AA, Untergasser A, Walker JA, Wang M, Yu F, Zhang C, Zhang J, Zheng-Bradley X, Zhou W, Zichner T, Sebat J, Batzer MA, McCarroll SA, 1000 Genomes Project Consortium, Mills RE, Gerstein MB, Bashir A, Stegle O, Devine SE, Lee C, Eichler EE, Korbel JO

Nature, 2015

doi:10.1038/nature15394.

A cell-based model system links chromothripsis with hyperploidy.

Mardin BR, Drainas AP, Waszak SM, Weischenfeldt J, Isokane M, Stütz AM, Raeder B, Efthymiopoulos T, Buccitelli C, Segura-Wang M, Northcott P, Pfister SM, Lichter P, Ellenberg J, Korbel JO

Molecular systems biology, 2015

doi:10.15252/msb.20156505.

Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.

Fischer U*, Forster M*, Rinaldi A*, Risch T*, Sungalee S*, Warnatz HJ*, Bornhauser B, Gombert M, Kratsch C, Stütz AM, Sultan M, Tchinda J, Worth CL, Amstislavskiy V, Badarinarayan N, Baruchel A, Bartram T, Basso G, Canpolat C, Cario G, Cavé H, Dakaj D, Delorenzi M, Dobay MP, Eckert C, Ellinghaus E, Eugster S, Frismantas V, Ginzel S, Haas OA, Heidenreich O, Hemmrich-Stanisak G, Hezaveh K, Höll JI, Hornhardt S, Husemann P, Kachroo P, Kratz CP, Kronnie GT, Marovca B, Niggli F, McHardy AC, Moorman AV, Panzer-Grümayer R, Petersen BS, Raeder B, Ralser M, Rosenstiel P, Schäfer D, Schrappe M, Schreiber S, Schütte M, Stade B, Thiele R, Weid NV, Vora A, Zaliova M, Zhang L, Zichner T, Zimmermann M, Lehrach H, Borkhardt A, Bourquin JP, Franke A, Korbel JO, Stanulla M, Yaspo ML

Nature genetics, 2015

doi:10.1038/ng.3362.

Pediatric T-lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation.

Kunz JB, Rausch T, Bandapalli OR, Eilers J, Pechanska P, Schuessele S, Assenov Y, Stütz AM, Kirschner-Schwabe R, Hof J, Eckert C, von Stackelberg A, Schrappe M, Stanulla M, Koehler R, Avigad S, Elitzur S, Handgretinger R, Benes V, Weischenfeldt J, Korbel JO, Muckenthaler MU, Kulozik AE

Haematologica, 2015

doi:10.3324/haematol.2015.129692.

Toward understanding and exploiting tumor heterogeneity.

Alizadeh AA, Aranda V, Bardelli A, Blanpain C, Bock C, Borowski C, Caldas C, Califano A, Doherty M, Elsner M, Esteller M, Fitzgerald R, Korbel JO, Lichter P, Mason CE, Navin N, Pe'er D, Polyak K, Roberts CWM, Siu L, Snyder A, Stower H, Swanton C, Verhaak RGW, Zenklusen JC, Zuber J, Zucman-Rossi J

NATURE MEDICINE, 2015

doi:10.1038/nm.3915.

Comprehensive genomic profiles of small cell lung cancer.

George J, Lim JS, Jang SJ, Cun YP, Ozretic L, Kong G, Leenders F, Lu X, Fernandez-Cuesta L, Bosco G, Muller C, Dahmen I, Jahchan NS, Park KS, Yang D, Karnezis AN, Vaka D, Torres A, Wang MS, Korbel JO, Menon R, Chun SM, Kim D, Wilkerson M, Hayes N, Engelmann D, Putzer B, Bos M, Michels S, Vlasic I, Seidel D, Pinther B, Schaub P, Becker C, Altmuller J, Yokota J, Kohno T, Iwakawa R, Tsuta K, Noguchi M, Muley T, Hoffmann H, Schnabel PA, Petersen I, Chen Y, Soltermann A, Tischler V, Choi CM, Kim YH, Massion PP, Zou Y, Jovanovic D, Kontic M, Wright GM, Russell PA, Solomon B, Koch I, Lindner M, Muscarella LA, la Torre A, Field JK, Jakopovic M, Knezevic J, Castanos-Velez E, Roz L, Pastorino U, Brustugun OT, Lund-Iversen M, Thunnissen E, Kohler J, Schuler M, Botling J, Sandelin M, Sanchez-Cespedes M, Salvesen HB, Achter V, Lang U, Bogus M, Schneider PM, Zander T, Ansen S, Hallek M, Wolf J, Vingron M, Yatabe Y, Travis WD, Nurnberg P, Reinhardt C, Perner S, Heukamp L, Buttner R, Haas SA, Brambilla E, Peifer M, Sage J, Thomas RK

NATURE, 2015

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Vy-PER: eliminating false positive detection of virus integration events in next generation sequencing data.

Forster M, Szymczak S, Ellinghaus D, Hemmrich G, Rühlemann M, Kraemer L, Mucha S, Wienbrandt L, Stanulla M, UFO Sequencing Consortium within I-BFM Study Group, Franke A

Scientific reports, 2015

doi:10.1038/srep11534.

Data analysis: Create a cloud commons.

Stein LD, Knoppers BM, Campbell P, Getz G, Korbel JO

Nature, 2015

doi:10.1038/523149a.

Assembly and diploid architecture of an individual human genome via single-molecule technologies.

Pendleton M, Sebra R, Pang AW, Ummat A, Franzen O, Rausch T, Stütz AM, Stedman W, Anantharaman T, Hastie A, Dai H, Fritz MH, Cao H, Cohain A, Deikus G, Durrett RE, Blanchard SC, Altman R, Chin CS, Guo Y, Paxinos EE, Korbel JO, Darnell RB, McCombie WR, Kwok PY, Mason CE, Schadt EE, Bashir A

Nature methods, 2015

doi:10.1038/nmeth.3454.

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.

Abyzov A, Li S, Kim DR, Mohiyuddin M, Stütz AM, Parrish NF, Mu XJ, Clark W, Chen K, Hurles M, Korbel JO, Lam HY, Lee C, Gerstein MB

Nature communications, 2015

doi:10.1038/ncomms8256.

The Aging Prostate Is Never "Normal": Implications from the Genomic Characterization of Multifocal Prostate Cancers.

Schlomm T, Weischenfeldt J, Korbel J, Sauter G

European urology, 2015

doi:10.1016/j.eururo.2015.04.012.

Prevalence of chromosomal rearrangements involving non-ETS genes in prostate cancer.

Kluth M, Galal R, Krohn A, Weischenfeldt J, Tsourlakis C, Paustian L, Ahrary R, Ahmed M, Scherzai S, Meyer A, Sirma H, Korbel J, Sauter G, Schlomm T, Simon R, Minner S

International journal of oncology, 2015

doi:10.3892/ijo.2015.2855.

BAZ2A (TIP5) is involved in epigenetic alterations in prostate cancer and its overexpression predicts disease recurrence.

Gu L, Frommel SC, Oakes CC, Simon R, Grupp K, Gerig CY, Bär D, Robinson MD, Baer C, Weiss M, Gu Z, Schapira M, Kuner R, Sültmann H, Provenzano M, ICGC Project on Early Onset Prostate Cancer, Yaspo ML, Brors B, Korbel J, Schlomm T, Sauter G, Eils R, Plass C, Santoro R

Nature genetics, 2014

doi:10.1038/ng.3165.

TMPRSS2-ERG Fusions Are Strongly Linked to Young Patient Age in Low-grade Prostate Cancer

Steurer S, Mayer PS, Adam M, Krohn A, Koop C, Ospina-Klinck D, Tehrani AA, Simon R, Tennstedt P, Graefen M, Wittmer C, Brors B, Plass C, Korbel J, Weischenfeldt J, Sauter G, Huland H, Tsourlakis MC, Minner S, Schlomm T

European urology, 2014

doi:10.1016/j.eururo.2014.06.027.

A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders.

Hammer C, Degenhardt F, Priebe L, Stütz AM, Heilmann S, Waszak SM, Schlattl A, Mangold E, Hoffmann P, Nöthen MM, Rietschel M, Rappold G, Korbel J, Cichon S, Niesler B

Bipolar disorders, 2014

doi:10.1111/bdi.12207.

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads.

Moncunill V, Gonzalez S, Beà S, Andrieux LO, Salaverria I, Royo C, Martinez L, Puiggròs M, Segura-Wang M, Stütz AM, Navarro A, Royo R, Gelpí JL, Gut IG, López-Otín C, Orozco M, Korbel JO, Campo E, Puente XS, Torrents D

Nature biotechnology, 2014

doi:10.1038/nbt.3027.

The landscape of human STR variation.

Willems T, Gymrek M, Highnam G, 1000 Genomes Project Consortium, Mittelman D, Erlich Y

Genome research, 2014

doi:10.1101/gr.177774.114.

Clinical significance of different types of p53 gene alteration in surgically treated prostate cancer.

Kluth M, Harasimowicz S, Burkhardt L, Grupp K, Krohn A, Prien K, Gjoni J, Haß T, Galal R, Graefen M, Haese A, Simon R, Hühne-Simon J, Koop C, Korbel J, Weischenfeld J, Huland H, Sauter G, Quaas A, Wilczak W, Tsourlakis MC, Minner S, Schlomm T

International journal of cancer. Journal international du cancer, 2014

doi:10.1002/ijc.28784.

Intratumor DNA Methylation Heterogeneity Reflects Clonal Evolution in Aggressive Prostate Cancer

Brocks D, Assenov Y, Minner S, Bogatyrova O, Simon R, Koop C, Oakes C, Zucknick M, Lipka DB, Weischenfeldt J, Feuerbach L, Cowper-Sal Lari R, Lupien M, Brors B, Korbel J, Schlomm T, Tanay A, Sauter G, Gerhäuser C, Plass C

Cell reports, 2014

doi:10.1016/j.celrep.2014.06.053.

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

Northcott PA, Lee C, Zichner T, Stütz AM, Erkek S, Kawauchi D, Shih DJ, Hovestadt V, Zapatka M, Sturm D, Jones DT, Kool M, Remke M, Cavalli FM, Zuyderduyn S, Bader GD, VandenBerg S, Esparza LA, Ryzhova M, Wang W, Wittmann A, Stark S, Sieber L, Seker-Cin H, Linke L, Kratochwil F, Jäger N, Buchhalter I, Imbusch CD, Zipprich G, Raeder B, Schmidt S, Diessl N, Wolf S, Wiemann S, Brors B, Lawerenz C, Eils J, Warnatz HJ, Risch T, Yaspo ML, Weber UD, Bartholomae CC, von Kalle C, Turányi E, Hauser P, Sanden E, Darabi A, Siesjö P, Sterba J, Zitterbart K, Sumerauer D, van Sluis P, Versteeg R, Volckmann R, Koster J, Schuhmann MU, Ebinger M, Grimes HL, Robinson GW, Gajjar A, Mynarek M, von Hoff K, Rutkowski S, Pietsch T, Scheurlen W, Felsberg J, Reifenberger G, Kulozik AE, von Deimling A, Witt O, Eils R, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Korbel JO, Wechsler-Reya RJ, Pfister SM

Nature, 2014

doi:10.1038/nature13379.

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines.

Huang W, Massouras A, Inoue Y, Peiffer J, Ràmia M, Tarone AM, Turlapati L, Zichner T, Zhu D, Lyman RF, Magwire MM, Blankenburg K, Carbone MA, Chang K, Ellis LL, Fernandez S, Han Y, Highnam G, Hjelmen CE, Jack JR, Javaid M, Jayaseelan J, Kalra D, Lee S, Lewis L, Munidasa M, Ongeri F, Patel S, Perales L, Perez A, Pu L, Rollmann SM, Ruth R, Saada N, Warner C, Williams A, Wu YQ, Yamamoto A, Zhang Y, Zhu Y, Anholt RR, Korbel JO, Mittelman D, Muzny DM, Gibbs RA, Barbadilla A, Johnston JS, Stone EA, Richards S, Deplancke B, Mackay TF

Genome research, 2014

doi:10.1101/gr.171546.113.

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.

Delaneau O, Marchini J, 1000 Genomes Project Consortium

Nature communications, 2014

doi:10.1038/ncomms4934.

The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse

Bandapalli OR, Schuessele S, Kunz JB, Rausch T, Stütz AM, Tal N, Geron I, Gershman N, Izraeli S, Eilers J, Vaezipour N, Kirschner-Schwabe R, Hof J, von Stackelberg A, Schrappe M, Stanulla M, Zimmermann M, Koehler R, Avigad S, Handgretinger R, Frismantas V, Bourquin JP, Bornhauser B, Korbel JO, Muckenthaler MU, Kulozik AE

Haematologica, 2014

doi:10.3324/haematol.2014.104992.

SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome

Bens S, Zichner T, Stütz AM, Caliebe A, Wagener R, Hoff K, Korbel JO, von Bismarck P, Siebert R

Genes and immunity, 2014

doi:10.1038/gene.2013.73.

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

Kool M, Jones DT, Jäger N, Northcott PA, Pugh TJ, Hovestadt V, Piro RM, Esparza LA, Markant SL, Remke M, Milde T, Bourdeaut F, Ryzhova M, Sturm D, Pfaff E, Stark S, Hutter S, Seker-Cin H, Johann P, Bender S, Schmidt C, Rausch T, Shih D, Reimand J, Sieber L, Wittmann A, Linke L, Witt H, Weber UD, Zapatka M, König R, Beroukhim R, Bergthold G, van Sluis P, Volckmann R, Koster J, Versteeg R, Schmidt S, Wolf S, Lawerenz C, Bartholomae CC, von Kalle C, Unterberg A, Herold-Mende C, Hofer S, Kulozik AE, von Deimling A, Scheurlen W, Felsberg J, Reifenberger G, Hasselblatt M, Crawford JR, Grant GA, Jabado N, Perry A, Cowdrey C, Croul S, Zadeh G, Korbel JO, Doz F, Delattre O, Bader GD, McCabe MG, Collins VP, Kieran MW, Cho YJ, Pomeroy SL, Witt O, Brors B, Taylor MD, Schüller U, Korshunov A, Eils R, Wechsler-Reya RJ, Lichter P, Pfister SM, ICGC PedBrain Tumor Project

Cancer cell, 2014

doi:10.1016/j.ccr.2014.02.004.

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy

Mack SC, Witt H, Piro RM, Gu L, Zuyderduyn S, Stütz AM, Wang X, Gallo M, Garzia L, Zayne K, Zhang X, Ramaswamy V, Jäger N, Jones DT, Sill M, Pugh TJ, Ryzhova M, Wani KM, Shih DJ, Head R, Remke M, Bailey SD, Zichner T, Faria CC, Barszczyk M, Stark S, Seker-Cin H, Hutter S, Johann P, Bender S, Hovestadt V, Tzaridis T, Dubuc AM, Northcott PA, Peacock J, Bertrand KC, Agnihotri S, Cavalli FM, Clarke I, Nethery-Brokx K, Creasy CL, Verma SK, Koster J, Wu X, Yao Y, Milde T, Sin-Chan P, Zuccaro J, Lau L, Pereira S, Castelo-Branco P, Hirst M, Marra MA, Roberts SS, Fults D, Massimi L, Cho YJ, Van Meter T, Grajkowska W, Lach B, Kulozik AE, von Deimling A, Witt O, Scherer SW, Fan X, Muraszko KM, Kool M, Pomeroy SL, Gupta N, Phillips J, Huang A, Tabori U, Hawkins C, Malkin D, Kongkham PN, Weiss WA, Jabado N, Rutka JT, Bouffet E, Korbel JO, Lupien M, Aldape KD, Bader GD, Eils R, Lichter P, Dirks PB, Pfister SM, Korshunov A, Taylor MD

Nature, 2014

doi:10.1038/nature13108.

Genome assembly and haplotyping with Hi-C

Korbel JO, Lee C

Nature biotechnology, 2013

doi:10.1038/nbt.2764.

Integrative annotation of variants from 1092 humans: application to cancer genomics

Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M

Science (New York, N.Y.), 2013

doi:10.1126/science.1235587.

Primate genome architecture influences structural variation mechanisms and functional consequences

Gokcumen O, Tischler V, Tica J, Zhu Q, Iskow RC, Lee E, Fritz MH, Langdon A, Stütz AM, Pavlidis P, Benes V, Mills RE, Park PJ, Lee C, Korbel JO

Proceedings of the National Academy of Sciences of the United States of America, 2013

doi:10.1073/pnas.1305904110.

Signatures of mutational processes in human cancer

Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Børresen-Dale AL, Boyault S, Burkhardt B, Butler AP, Caldas C, Davies HR, Desmedt C, Eils R, Eyfjörd JE, Foekens JA, Greaves M, Hosoda F, Hutter B, Ilicic T, Imbeaud S, Imielinski M, Jäger N, Jones DT, Jones D, Knappskog S, Kool M, Lakhani SR, López-Otín C, Martin S, Munshi NC, Nakamura H, Northcott PA, Pajic M, Papaemmanuil E, Paradiso A, Pearson JV, Puente XS, Raine K, Ramakrishna M, Richardson AL, Richter J, Rosenstiel P, Schlesner M, Schumacher TN, Span PN, Teague JW, Totoki Y, Tutt AN, Valdés-Mas R, van Buuren MM, van 't Veer L, Vincent-Salomon A, Waddell N, Yates LR, Australian Pancreatic Cancer Genome Initiative, ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, ICGC PedBrain, Zucman-Rossi J, Futreal PA, McDermott U, Lichter P, Meyerson M, Grimmond SM, Siebert R, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR

Nature, 2013

doi:10.1038/nature12477.

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, Warnatz HJ, Zichner T, Lambert SR, Ryzhova M, Quang DA, Fontebasso AM, Stütz AM, Hutter S, Zuckermann M, Sturm D, Gronych J, Lasitschka B, Schmidt S, Seker-Cin H, Witt H, Sultan M, Ralser M, Northcott PA, Hovestadt V, Bender S, Pfaff E, Stark S, Faury D, Schwartzentruber J, Majewski J, Weber UD, Zapatka M, Raeder B, Schlesner M, Worth CL, Bartholomae CC, von Kalle C, Imbusch CD, Radomski S, Lawerenz C, van Sluis P, Koster J, Volckmann R, Versteeg R, Lehrach H, Monoranu C, Winkler B, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, Ebinger M, Schuhmann MU, Cho YJ, Pomeroy SL, von Deimling A, Witt O, Taylor MD, Wolf S, Karajannis MA, Eberhart CG, Scheurlen W, Hasselblatt M, Ligon KL, Kieran MW, Korbel JO, Yaspo ML, Brors B, Felsberg J, Reifenberger G, Collins VP, Jabado N, Eils R, Lichter P, Pfister SM, International Cancer Genome Consortium PedBrain Tumor Project

Nature genetics, 2013

doi:10.1038/ng.2682.

The genomic and transcriptomic landscape of a HeLa cell line

Landry JJ, Pyl PT, Rausch T, Zichner T, Tekkedil MM, Stütz AM, Jauch A, Aiyar RS, Pau G, Delhomme N, Gagneur J, Korbel JO, Huber W, Steinmetz LM

G3 (Bethesda, Md.), 2013

doi:10.1534/g3.113.005777.

Genomic deletion of MAP3K7 at 6q12-22 is associated with early PSA recurrence in prostate cancer and absence of TMPRSS2:ERG fusions

Kluth M, Hesse J, Heinl A, Krohn A, Steurer S, Sirma H, Simon R, Mayer PS, Schumacher U, Grupp K, Izbicki JR, Pantel K, Dikomey E, Korbel JO, Plass C, Sauter G, Schlomm T, Minner S

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2013

doi:10.1038/modpathol.2012.236.

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

Greil J, Rausch T, Giese T, Bandapalli OR, Daniel V, Bekeredjian-Ding I, Stütz AM, Drees C, Roth S, Ruland J, Korbel JO, Kulozik AE

The Journal of allergy and clinical immunology, 2013

doi:10.1016/j.jaci.2013.02.012.

Recurrent FGFR1 hotspot mutations represent a novel therapeutic target in childhood astrocytorna

Jones DTW, Hutter B, Jager N, Korshunov A, Kool M, Lambert SR, Quang DAK, Fontebasso AM, Ryzhova M, Warnatz HJ, Zichner T, Korbel JO, Wolf S, Yaspo ML, Ligon KL, Kieran MW, Brors B, Feisberg J, Reifenberger G, Collins VP, Jabado N, Elis R, Lichter P, Pfister SM

CANCER RESEARCH, 2013

doi:10.1158/1538-7445.AM2013-4594.

FAMILIAL MEDULLOBLASTOMA: USING NEXT-GENERATION SEQUENCING TO UNCOVER PREDISPOSITION IN CLINICALLY SPORADIC MEDULLOBLASTOMA PATIENTS

Northcott P, Zichner T, Jones D, Kool M, Jager N, Feychting M, Lannering B, Tynes T, Wesenberg F, Hauser P, Ra YS, Zitterbart K, Jabado N, Chan J, Fults D, Mueller S, Grajkowska W, Lichter P, Korbel J, Pfister S

NEURO-ONCOLOGY, 2013

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Criteria for inference of chromothripsis in cancer genomes

Korbel JO, Campbell PJ

Cell, 2013

doi:10.1016/j.cell.2013.02.023.

Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing

Zichner T, Garfield DA, Rausch T, Stütz AM, Cannavó E, Braun M, Furlong EE, Korbel JO

Genome research, 2013

doi:10.1101/gr.142646.112.

Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer

Weischenfeldt J, Simon R, Feuerbach L, Schlangen K, Weichenhan D, Minner S, Wuttig D, Warnatz HJ, Stehr H, Rausch T, Jäger N, Gu L, Bogatyrova O, Stütz AM, Claus R, Eils J, Eils R, Gerhäuser C, Huang PH, Hutter B, Kabbe R, Lawerenz C, Radomski S, Bartholomae CC, Fälth M, Gade S, Schmidt M, Amschler N, Haß T, Galal R, Gjoni J, Kuner R, Baer C, Masser S, von Kalle C, Zichner T, Benes V, Raeder B, Mader M, Amstislavskiy V, Avci M, Lehrach H, Parkhomchuk D, Sultan M, Burkhardt L, Graefen M, Huland H, Kluth M, Krohn A, Sirma H, Stumm L, Steurer S, Grupp K, Sültmann H, Sauter G, Plass C, Brors B, Yaspo ML, Korbel JO, Schlomm T

Cancer cell, 2013

doi:10.1016/j.ccr.2013.01.002.

Phenotypic impact of genomic structural variation: insights from and for human disease

Weischenfeldt J, Symmons O, Spitz F, Korbel JO

Nature reviews. Genetics, 2013

doi:10.1038/nrg3373.

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A

Matrix biology : journal of the International Society for Matrix Biology, 2013

doi:10.1016/j.matbio.2013.05.001.

High-resolution genomic profiling of chronic lymphocytic leukemia reveals new recurrent genomic alterations

Edelmann J, Holzmann K, Miller F, Winkler D, Bühler A, Zenz T, Bullinger L, Kühn MW, Gerhardinger A, Bloehdorn J, Radtke I, Su X, Ma J, Pounds S, Hallek M, Lichter P, Korbel J, Busch R, Mertens D, Downing JR, Stilgenbauer S, Döhner H

Blood, 2012

doi:10.1182/blood-2012-04-423517.

Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

Richter J, Schlesner M, Hoffmann S, Kreuz M, Leich E, Burkhardt B, Rosolowski M, Ammerpohl O, Wagener R, Bernhart SH, Lenze D, Szczepanowski M, Paulsen M, Lipinski S, Russell RB, Adam-Klages S, Apic G, Claviez A, Hasenclever D, Hovestadt V, Hornig N, Korbel JO, Kube D, Langenberger D, Lawerenz C, Lisfeld J, Meyer K, Picelli S, Pischimarov J, Radlwimmer B, Rausch T, Rohde M, Schilhabel M, Scholtysik R, Spang R, Trautmann H, Zenz T, Borkhardt A, Drexler HG, Möller P, MacLeod RA, Pott C, Schreiber S, Trümper L, Loeffler M, Stadler PF, Lichter P, Eils R, Küppers R, Hummel M, Klapper W, Rosenstiel P, Rosenwald A, Brors B, Siebert R, ICGC MMML-Seq Project

Nature genetics, 2012

doi:10.1038/ng.2469.

An integrated map of genetic variation from 1,092 human genomes

1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA

Nature, 2012

doi:10.1038/nature11632.

DELLY: structural variant discovery by integrated paired-end and split-read analysis

Rausch T, Zichner T, Schlattl A, Stütz AM, Benes V, Korbel JO

Bioinformatics (Oxford, England), 2012

doi:10.1093/bioinformatics/bts378.

Dissecting the genomic complexity underlying medulloblastoma

Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, Cho YJ, Pugh TJ, Hovestadt V, Stütz AM, Rausch T, Warnatz HJ, Ryzhova M, Bender S, Sturm D, Pleier S, Cin H, Pfaff E, Sieber L, Wittmann A, Remke M, Witt H, Hutter S, Tzaridis T, Weischenfeldt J, Raeder B, Avci M, Amstislavskiy V, Zapatka M, Weber UD, Wang Q, Lasitschka B, Bartholomae CC, Schmidt M, von Kalle C, Ast V, Lawerenz C, Eils J, Kabbe R, Benes V, van Sluis P, Koster J, Volckmann R, Shih D, Betts MJ, Russell RB, Coco S, Tonini GP, Schüller U, Hans V, Graf N, Kim YJ, Monoranu C, Roggendorf W, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, von Deimling A, Witt O, Maass E, Rössler J, Ebinger M, Schuhmann MU, Frühwald MC, Hasselblatt M, Jabado N, Rutkowski S, von Bueren AO, Williamson D, Clifford SC, McCabe MG, Collins VP, Wolf S, Wiemann S, Lehrach H, Brors B, Scheurlen W, Felsberg J, Reifenberger G, Northcott PA, Taylor MD, Meyerson M, Pomeroy SL, Yaspo ML, Korbel JO, Korshunov A, Eils R, Pfister SM, Lichter P

Nature, 2012

doi:10.1038/nature11284.

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE, Beroukhim R, Ellison DW, Marshall CR, Lionel AC, Mack S, Dubuc A, Yao Y, Ramaswamy V, Luu B, Rolider A, Cavalli FM, Wang X, Remke M, Wu X, Chiu RY, Chu A, Chuah E, Corbett RD, Hoad GR, Jackman SD, Li Y, Lo A, Mungall KL, Nip KM, Qian JQ, Raymond AG, Thiessen NT, Varhol RJ, Birol I, Moore RA, Mungall AJ, Holt R, Kawauchi D, Roussel MF, Kool M, Jones DT, Witt H, Fernandez-L A, Kenney AM, Wechsler-Reya RJ, Dirks P, Aviv T, Grajkowska WA, Perek-Polnik M, Haberler CC, Delattre O, Reynaud SS, Doz FF, Pernet-Fattet SS, Cho BK, Kim SK, Wang KC, Scheurlen W, Eberhart CG, Fèvre-Montange M, Jouvet A, Pollack IF, Fan X, Muraszko KM, Gillespie GY, Di Rocco C, Massimi L, Michiels EM, Kloosterhof NK, French PJ, Kros JM, Olson JM, Ellenbogen RG, Zitterbart K, Kren L, Thompson RC, Cooper MK, Lach B, McLendon RE, Bigner DD, Fontebasso A, Albrecht S, Jabado N, Lindsey JC, Bailey S, Gupta N, Weiss WA, Bognár L, Klekner A, Van Meter TE, Kumabe T, Tominaga T, Elbabaa SK, Leonard JR, Rubin JB, Liau LM, Van Meir EG, Fouladi M, Nakamura H, Cinalli G, Garami M, Hauser P, Saad AG, Iolascon A, Jung S, Carlotti CG, Vibhakar R, Ra YS, Robinson S, Zollo M, Faria CC, Chan JA, Levy ML, Sorensen PH, Meyerson M, Pomeroy SL, Cho YJ, Bader GD, Tabori U, Hawkins CE, Bouffet E, Scherer SW, Rutka JT, Malkin D, Clifford SC, Jones SJ, Korbel JO, Pfister SM, Marra MA, Taylor MD

Nature, 2012

doi:10.1038/nature11327.

The 1000 Genomes Project: data management and community access

Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, Sherry S, Flicek P, 1000 Genomes Project Consortium

Nature methods, 2012

doi:10.1038/nmeth.1974.

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma (vol 482, pg 226, 2012)

Schwartzentruber J, Korshunov A, Liu XY, Jones DTW, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DAK, Tonjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jager N, Rausch T, Ryzhova M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen W, Pekrun A, Fruhwald MC, Roggendorf W, Kramm C, Durken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski PP, Dong ZF, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM, Jabado N

NATURE, 2012

doi:10.1038/nature11026.

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL

Haemmerling S, Behnisch W, Doerks T, Korbel JO, Bork P, Moog U, Hentze S, Grasshoff U, Bonin M, Rieß O, Janssen JW, Jauch A, Bartram CR, Reinhardt D, Koch KA, Bandapalli OR, Kulozik AE

British journal of haematology, 2012

doi:10.1111/j.1365-2141.2012.09028.x.

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jäger N, Rausch T, Ryzhova M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen W, Pekrun A, Frühwald MC, Roggendorf W, Kramm C, Dürken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM, Jabado N

Nature, 2012

doi:10.1038/nature10833.

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

Rausch T, Jones DT, Zapatka M, Stütz AM, Zichner T, Weischenfeldt J, Jäger N, Remke M, Shih D, Northcott PA, Pfaff E, Tica J, Wang Q, Massimi L, Witt H, Bender S, Pleier S, Cin H, Hawkins C, Beck C, von Deimling A, Hans V, Brors B, Eils R, Scheurlen W, Blake J, Benes V, Kulozik AE, Witt O, Martin D, Zhang C, Porat R, Merino DM, Wasserman J, Jabado N, Fontebasso A, Bullinger L, Rücker FG, Döhner K, Döhner H, Koster J, Molenaar JJ, Versteeg R, Kool M, Tabori U, Malkin D, Korshunov A, Taylor MD, Lichter P, Pfister SM, Korbel JO

Cell, 2012

doi:10.1016/j.cell.2011.12.013.

Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

Schlattl A, Anders S, Waszak SM, Huber W, Korbel JO

Genome research, 2011

doi:10.1101/gr.122614.111.

Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond

Onishi-Seebacher M, Korbel JO

BioEssays : news and reviews in molecular, cellular and developmental biology, 2011

doi:10.1002/bies.201100075.

A comprehensive map of mobile element insertion polymorphisms in humans

Stewart C, Kural D, Strömberg MP, Walker JA, Konkel MK, Stütz AM, Urban AE, Grubert F, Lam HY, Lee WP, Busby M, Indap AR, Garrison E, Huff C, Xing J, Snyder MP, Jorde LB, Batzer MA, Korbel JO, Marth GT, 1000 Genomes Project

PLoS genetics, 2011

doi:10.1371/journal.pgen.1002236.

Variation in genome-wide mutation rates within and between human families

Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P, 1000 Genomes Project

Nature genetics, 2011

doi:10.1038/ng.862.

Demographic history and rare allele sharing among human populations

Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA, 1000 Genomes Project, Bustamante CD

Proceedings of the National Academy of Sciences of the United States of America, 2011

doi:10.1073/pnas.1019276108.

Mapping copy number variation by population-scale genome sequencing

Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO, 1000 Genomes Project

Nature, 2011

doi:10.1038/nature09708.

The functional spectrum of low-frequency coding variation

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R, 1000 Genomes Project

Genome biology, 2011

doi:10.1186/gb-2011-12-9-r84.

A map of human genome variation from population-scale sequencing

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA

Nature, 2010

doi:10.1038/nature09534.

Diversity of human copy number variation and multicopy genes

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, 1000 Genomes Project, Eichler EE

Science (New York, N.Y.), 2010

doi:10.1126/science.1197005.

The baker's yeast diploid genome is remarkably stable in vegetative growth and meiosis

Nishant KT, Wei W, Mancera E, Argueso JL, Schlattl A, Delhomme N, Ma X, Bustamante CD, Korbel JO, Gu Z, Steinmetz LM, Alani E

PLoS genetics, 2010

doi:10.1371/journal.pgen.1001109.

International network of cancer genome projects

International Cancer Genome Consortium, Hudson TJ, Anderson W, Artez A, Barker AD, Bell C, Bernabé RR, Bhan MK, Calvo F, Eerola I, Gerhard DS, Guttmacher A, Guyer M, Hemsley FM, Jennings JL, Kerr D, Klatt P, Kolar P, Kusada J, Lane DP, Laplace F, Youyong L, Nettekoven G, Ozenberger B, Peterson J, Rao TS, Remacle J, Schafer AJ, Shibata T, Stratton MR, Vockley JG, Watanabe K, Yang H, Yuen MM, Knoppers BM, Bobrow M, Cambon-Thomsen A, Dressler LG, Dyke SO, Joly Y, Kato K, Kennedy KL, Nicolás P, Parker MJ, Rial-Sebbag E, Romeo-Casabona CM, Shaw KM, Wallace S, Wiesner GL, Zeps N, Lichter P, Biankin AV, Chabannon C, Chin L, Clément B, de Alava E, Degos F, Ferguson ML, Geary P, Hayes DN, Hudson TJ, Johns AL, Kasprzyk A, Nakagawa H, Penny R, Piris MA, Sarin R, Scarpa A, Shibata T, van de Vijver M, Futreal PA, Aburatani H, Bayés M, Botwell DD, Campbell PJ, Estivill X, Gerhard DS, Grimmond SM, Gut I, Hirst M, López-Otín C, Majumder P, Marra M, McPherson JD, Nakagawa H, Ning Z, Puente XS, Ruan Y, Shibata T, Stratton MR, Stunnenberg HG, Swerdlow H, Velculescu VE, Wilson RK, Xue HH, Yang L, Spellman PT, Bader GD, Boutros PC, Campbell PJ, Flicek P, Getz G, Guigó R, Guo G, Haussler D, Heath S, Hubbard TJ, Jiang T, Jones SM, Li Q, López-Bigas N, Luo R, Muthuswamy L, Ouellette BF, Pearson JV, Puente XS, Quesada V, Raphael BJ, Sander C, Shibata T, Speed TP, Stein LD, Stuart JM, Teague JW, Totoki Y, Tsunoda T, Valencia A, Wheeler DA, Wu H, Zhao S, Zhou G, Stein LD, Guigó R, Hubbard TJ, Joly Y, Jones SM, Kasprzyk A, Lathrop M, López-Bigas N, Ouellette BF, Spellman PT, Teague JW, Thomas G, Valencia A, Yoshida T, Kennedy KL, Axton M, Dyke SO, Futreal PA, Gerhard DS, Gunter C, Guyer M, Hudson TJ, McPherson JD, Miller LJ, Ozenberger B, Shaw KM, Kasprzyk A, Stein LD, Zhang J, Haider SA, Wang J, Yung CK, Cros A, Liang Y, Gnaneshan S, Guberman J, Hsu J, Bobrow M, Chalmers DR, Hasel KW, Joly Y, Kaan TS, Kennedy KL, Knoppers BM, Lowrance WW, Masui T, Nicolás P, Rial-Sebbag E, Rodriguez LL, Vergely C, Yoshida T, Grimmond SM, Biankin AV, Bowtell DD, Cloonan N, deFazio A, Eshleman JR, Etemadmoghadam D, Gardiner BB, Kench JG, Scarpa A, Sutherland RL, Tempero MA, Waddell NJ, Wilson PJ, McPherson JD, Gallinger S, Tsao MS, Shaw PA, Petersen GM, Mukhopadhyay D, Chin L, DePinho RA, Thayer S, Muthuswamy L, Shazand K, Beck T, Sam M, Timms L, Ballin V, Lu Y, Ji J, Zhang X, Chen F, Hu X, Zhou G, Yang Q, Tian G, Zhang L, Xing X, Li X, Zhu Z, Yu Y, Yu J, Yang H, Lathrop M, Tost J, Brennan P, Holcatova I, Zaridze D, Brazma A, Egevard L, Prokhortchouk E, Banks RE, Uhlén M, Cambon-Thomsen A, Viksna J, Ponten F, Skryabin K, Stratton MR, Futreal PA, Birney E, Borg A, Børresen-Dale AL, Caldas C, Foekens JA, Martin S, Reis-Filho JS, Richardson AL, Sotiriou C, Stunnenberg HG, Thoms G, van de Vijver M, van't Veer L, Calvo F, Birnbaum D, Blanche H, Boucher P, Boyault S, Chabannon C, Gut I, Masson-Jacquemier JD, Lathrop M, Pauporté I, Pivot X, Vincent-Salomon A, Tabone E, Theillet C, Thomas G, Tost J, Treilleux I, Calvo F, Bioulac-Sage P, Clément B, Decaens T, Degos F, Franco D, Gut I, Gut M, Heath S, Lathrop M, Samuel D, Thomas G, Zucman-Rossi J, Lichter P, Eils R, Brors B, Korbel JO, Korshunov A, Landgraf P, Lehrach H, Pfister S, Radlwimmer B, Reifenberger G, Taylor MD, von Kalle C, Majumder PP, Sarin R, Rao TS, Bhan MK, Scarpa A, Pederzoli P, Lawlor RA, Delledonne M, Bardelli A, Biankin AV, Grimmond SM, Gress T, Klimstra D, Zamboni G, Shibata T, Nakamura Y, Nakagawa H, Kusada J, Tsunoda T, Miyano S, Aburatani H, Kato K, Fujimoto A, Yoshida T, Campo E, López-Otín C, Estivill X, Guigó R, de Sanjosé S, Piris MA, Montserrat E, González-Díaz M, Puente XS, Jares P, Valencia A, Himmelbauer H, Quesada V, Bea S, Stratton MR, Futreal PA, Campbell PJ, Vincent-Salomon A, Richardson AL, Reis-Filho JS, van de Vijver M, Thomas G, Masson-Jacquemier JD, Aparicio S, Borg A, Børresen-Dale AL, Caldas C, Foekens JA, Stunnenberg HG, van't Veer L, Easton DF, Spellman PT, Martin S, Barker AD, Chin L, Collins FS, Compton CC, Ferguson ML, Gerhard DS, Getz G, Gunter C, Guttmacher A, Guyer M, Hayes DN, Lander ES, Ozenberger B, Penny R, Peterson J, Sander C, Shaw KM, Speed TP, Spellman PT, Vockley JG, Wheeler DA, Wilson RK, Hudson TJ, Chin L, Knoppers BM, Lander ES, Lichter P, Stein LD, Stratton MR, Anderson W, Barker AD, Bell C, Bobrow M, Burke W, Collins FS, Compton CC, DePinho RA, Easton DF, Futreal PA, Gerhard DS, Green AR, Guyer M, Hamilton SR, Hubbard TJ, Kallioniemi OP, Kennedy KL, Ley TJ, Liu ET, Lu Y, Majumder P, Marra M, Ozenberger B, Peterson J, Schafer AJ, Spellman PT, Stunnenberg HG, Wainwright BJ, Wilson RK, Yang H

Nature, 2010

doi:10.1038/nature08987.

Variation in transcription factor binding among humans

Kasowski M, Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong MY, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, Korbel JO, Snyder M

Science (New York, N.Y.), 2010

doi:10.1126/science.1183621.

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

Lam HY, Mu XJ, Stütz AM, Tanzer A, Cayting PD, Snyder M, Kim PM, Korbel JO, Gerstein MB

Nature biotechnology, 2010

doi:10.1038/nbt.1600.

Potential and challenges of personalized genomics and the 1000 Genome Project

Stutz AM, Korbel JO

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2010

doi:10.1007/s11825-010-0220-5.

Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity

Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO

PLoS computational biology, 2010

doi:10.1371/journal.pcbi.1000988.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR

Proceedings of the National Academy of Sciences of the United States of America, 2009

doi:10.1073/pnas.0813248106.

Distinct genomic aberrations associated with ERG rearranged prostate cancer

Demichelis F, Setlur SR, Beroukhim R, Perner S, Korbel JO, Lafargue CJ, Pflueger D, Pina C, Hofer MD, Sboner A, Svensson MA, Rickman DS, Urban A, Snyder M, Meyerson M, Lee C, Gerstein MB, Kuefer R, Rubin MA

Genes, chromosomes & cancer, 2009

doi:10.1002/gcc.20647.

Quantifying environmental adaptation of metabolic pathways in metagenomics

Gianoulis TA, Raes J, Patel PV, Bjornson R, Korbel JO, Letunic I, Yamada T, Paccanaro A, Jensen LJ, Snyder M, Bork P, Gerstein MB

Proceedings of the National Academy of Sciences of the United States of America, 2009

doi:10.1073/pnas.0808022106.

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

Korbel JO, Abyzov A, Mu XJ, Carriero N, Cayting P, Zhang Z, Snyder M, Gerstein MB

Genome biology, 2009

doi:10.1186/gb-2009-10-2-r23.

MSB: a mean-shift-based approach for the analysis of structural variation in the genome

Wang LY, Abyzov A, Korbel JO, Snyder M, Gerstein M

Genome research, 2009

doi:10.1101/gr.080069.108.

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

Kim PM, Lam HY, Urban AE, Korbel JO, Affourtit J, Grubert F, Chen X, Weissman S, Snyder M, Gerstein MB

Genome research, 2008

doi:10.1101/gr.081422.108.

High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution

Hasin Y, Olender T, Khen M, Gonzaga-Jauregui C, Kim PM, Urban AE, Snyder M, Gerstein MB, Lancet D, Korbel JO

PLoS genetics, 2008

doi:10.1371/journal.pgen.1000249.

The current excitement about copy-number variation: how it relates to gene duplications and protein families

Korbel JO, Kim PM, Chen X, Urban AE, Weissman S, Snyder M, Gerstein MB

Current opinion in structural biology, 2008

doi:10.1016/j.sbi.2008.02.005.

Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies

Lee AS, Gutiérrez-Arcelus M, Perry GH, Vallender EJ, Johnson WE, Miller GM, Korbel JO, Lee C

Human molecular genetics, 2008

doi:10.1093/hmg/ddn002.

Positive selection at the protein network periphery: evaluation in terms of structural constraints and cellular context

Kim PM, Korbel JO, Gerstein MB

Proceedings of the National Academy of Sciences of the United States of America, 2007

doi:10.1073/pnas.0710183104.

Paired-end mapping reveals extensive structural variation in the human genome

Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L, Taillon BE, Chen Z, Tanzer A, Saunders AC, Chi J, Yang F, Carter NP, Hurles ME, Weissman SM, Harkins TT, Gerstein MB, Egholm M, Snyder M

Science (New York, N.Y.), 2007

doi:10.1126/science.1149504.

Use of pathway analysis and genome context methods for functional genomics of Mycoplasma pneumoniae nucleotide metabolism

Pachkov M, Dandekar T, Korbel J, Bork P, Schuster S

Gene, 2007

doi:10.1016/j.gene.2007.02.033.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

ENCODE Project Consortium, Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S, Koch CM, Asthana S, Malhotra A, Adzhubei I, Greenbaum JA, Andrews RM, Flicek P, Boyle PJ, Cao H, Carter NP, Clelland GK, Davis S, Day N, Dhami P, Dillon SC, Dorschner MO, Fiegler H, Giresi PG, Goldy J, Hawrylycz M, Haydock A, Humbert R, James KD, Johnson BE, Johnson EM, Frum TT, Rosenzweig ER, Karnani N, Lee K, Lefebvre GC, Navas PA, Neri F, Parker SC, Sabo PJ, Sandstrom R, Shafer A, Vetrie D, Weaver M, Wilcox S, Yu M, Collins FS, Dekker J, Lieb JD, Tullius TD, Crawford GE, Sunyaev S, Noble WS, Dunham I, Denoeud F, Reymond A, Kapranov P, Rozowsky J, Zheng D, Castelo R, Frankish A, Harrow J, Ghosh S, Sandelin A, Hofacker IL, Baertsch R, Keefe D, Dike S, Cheng J, Hirsch HA, Sekinger EA, Lagarde J, Abril JF, Shahab A, Flamm C, Fried C, Hackermüller J, Hertel J, Lindemeyer M, Missal K, Tanzer A, Washietl S, Korbel J, Emanuelsson O, Pedersen JS, Holroyd N, Taylor R, Swarbreck D, Matthews N, Dickson MC, Thomas DJ, Weirauch MT, Gilbert J, Drenkow J, Bell I, Zhao X, Srinivasan KG, Sung WK, Ooi HS, Chiu KP, Foissac S, Alioto T, Brent M, Pachter L, Tress ML, Valencia A, Choo SW, Choo CY, Ucla C, Manzano C, Wyss C, Cheung E, Clark TG, Brown JB, Ganesh M, Patel S, Tammana H, Chrast J, Henrichsen CN, Kai C, Kawai J, Nagalakshmi U, Wu J, Lian Z, Lian J, Newburger P, Zhang X, Bickel P, Mattick JS, Carninci P, Hayashizaki Y, Weissman S, Hubbard T, Myers RM, Rogers J, Stadler PF, Lowe TM, Wei CL, Ruan Y, Struhl K, Gerstein M, Antonarakis SE, Fu Y, Green ED, Karaöz U, Siepel A, Taylor J, Liefer LA, Wetterstrand KA, Good PJ, Feingold EA, Guyer MS, Cooper GM, Asimenos G, Dewey CN, Hou M, Nikolaev S, Montoya-Burgos JI, Löytynoja A, Whelan S, Pardi F, Massingham T, Huang H, Zhang NR, Holmes I, Mullikin JC, Ureta-Vidal A, Paten B, Seringhaus M, Church D, Rosenbloom K, Kent WJ, Stone EA, NISC Comparative Sequencing Program, Baylor College of Medicine Human Genome Sequencing Center, Washington University Genome Sequencing Center, Broad Institute, Children's Hospital Oakland Research Institute, Batzoglou S, Goldman N, Hardison RC, Haussler D, Miller W, Sidow A, Trinklein ND, Zhang ZD, Barrera L, Stuart R, King DC, Ameur A, Enroth S, Bieda MC, Kim J, Bhinge AA, Jiang N, Liu J, Yao F, Vega VB, Lee CW, Ng P, Shahab A, Yang A, Moqtaderi Z, Zhu Z, Xu X, Squazzo S, Oberley MJ, Inman D, Singer MA, Richmond TA, Munn KJ, Rada-Iglesias A, Wallerman O, Komorowski J, Fowler JC, Couttet P, Bruce AW, Dovey OM, Ellis PD, Langford CF, Nix DA, Euskirchen G, Hartman S, Urban AE, Kraus P, Van Calcar S, Heintzman N, Kim TH, Wang K, Qu C, Hon G, Luna R, Glass CK, Rosenfeld MG, Aldred SF, Cooper SJ, Halees A, Lin JM, Shulha HP, Zhang X, Xu M, Haidar JN, Yu Y, Ruan Y, Iyer VR, Green RD, Wadelius C, Farnham PJ, Ren B, Harte RA, Hinrichs AS, Trumbower H, Clawson H, Hillman-Jackson J, Zweig AS, Smith K, Thakkapallayil A, Barber G, Kuhn RM, Karolchik D, Armengol L, Bird CP, de Bakker PI, Kern AD, Lopez-Bigas N, Martin JD, Stranger BE, Woodroffe A, Davydov E, Dimas A, Eyras E, Hallgrímsdóttir IB, Huppert J, Zody MC, Abecasis GR, Estivill X, Bouffard GG, Guan X, Hansen NF, Idol JR, Maduro VV, Maskeri B, McDowell JC, Park M, Thomas PJ, Young AC, Blakesley RW, Muzny DM, Sodergren E, Wheeler DA, Worley KC, Jiang H, Weinstock GM, Gibbs RA, Graves T, Fulton R, Mardis ER, Wilson RK, Clamp M, Cuff J, Gnerre S, Jaffe DB, Chang JL, Lindblad-Toh K, Lander ES, Koriabine M, Nefedov M, Osoegawa K, Yoshinaga Y, Zhu B, de Jong PJ

Nature, 2007

doi:10.1038/nature05874.

What is a gene, post-ENCODE? History and updated definition

Gerstein MB, Bruce C, Rozowsky JS, Zheng D, Du J, Korbel JO, Emanuelsson O, Zhang ZD, Weissman S, Snyder M

Genome research, 2007

doi:10.1101/gr.6339607.

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome

Korbel JO, Urban AE, Grubert F, Du J, Royce TE, Starr P, Zhong G, Emanuel BS, Weissman SM, Snyder M, Gerstein MB

Proceedings of the National Academy of Sciences of the United States of America, 2007

doi:10.1073/pnas.0703834104.

The DART classification of unannotated transcription within the ENCODE regions: associating transcription with known and novel loci

Rozowsky JS, Newburger D, Sayward F, Wu J, Jordan G, Korbel JO, Nagalakshmi U, Yang J, Zheng D, Guigó R, Gingeras TR, Weissman S, Miller P, Snyder M, Gerstein MB

Genome research, 2007

doi:10.1101/gr.5696007.

Structured RNAs in the ENCODE selected regions of the human genome

Washietl S, Pedersen JS, Korbel JO, Stocsits C, Gruber AR, Hackermüller J, Hertel J, Lindemeyer M, Reiche K, Tanzer A, Ucla C, Wyss C, Antonarakis SE, Denoeud F, Lagarde J, Drenkow J, Kapranov P, Gingeras TR, Guigó R, Snyder M, Gerstein MB, Reymond A, Hofacker IL, Stadler PF

Genome research, 2007

doi:10.1101/gr.5650707.

Global identification and characterization of transcriptionally active regions in the rice genome

Li L, Wang X, Sasidharan R, Stolc V, Deng W, He H, Korbel J, Chen X, Tongprasit W, Ronald P, Chen R, Gerstein M, Deng XW

PloS one, 2007

doi:10.1371/journal.pone.0000294.

Prediction of effective genome size in metagenomic samples

Raes J, Korbel JO, Lercher MJ, von Mering C, Bork P

Genome biology, 2007

doi:10.1186/gb-2007-8-1-r10.

A supervised hidden markov model framework for efficiently segmenting tiling array data in transcriptional and chIP-chip experiments: systematically incorporating validated biological knowledge

Du J, Rozowsky JS, Korbel JO, Zhang ZD, Royce TE, Schultz MH, Snyder M, Gerstein M

Bioinformatics (Oxford, England), 2006

doi:10.1093/bioinformatics/btl515.

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, Cubells JF, Green R, Emanuel BS, Gerstein MB, Weissman SM, Snyder M

Proceedings of the National Academy of Sciences of the United States of America, 2006

doi:10.1073/pnas.0511340103.

Similar gene expression profiles do not imply similar tissue functions

Yanai I, Korbel JO, Boue S, McWeeney SK, Bork P, Lercher MJ

Trends in genetics : TIG, 2006

doi:10.1016/j.tig.2006.01.006.

Novel transcribed regions in the human genome

Rozowsky J, Wu J, Lian Z, Nagalakshmi U, Korbel JO, Kapranov P, Zheng D, Dyke S, Newburger P, Miller P, Gingeras TR, Weissman S, Gerstein M, Snyder M

Cold Spring Harbor symposia on quantitative biology, 2006

doi:10.1101/sqb.2006.71.054.

Systematic association of genes to phenotypes by genome and literature mining

Korbel JO, Doerks T, Jensen LJ, Perez-Iratxeta C, Kaczanowski S, Hooper SD, Andrade MA, Bork P

PLoS biology, 2005

doi:10.1371/journal.pbio.0030134.

Analysis of genomic context: prediction of functional associations from conserved bidirectionally transcribed gene pairs

Korbel JO, Jensen LJ, von Mering C, Bork P

Nature biotechnology, 2004

doi:10.1038/nbt988.

Transgene methylation in mice reflects copy number but not expression level

Pena RN, Webster J, Kwan S, Korbel J, Whitelaw BA

Molecular biotechnology, 2004

doi:10.1385/mb:26:3:215.

The Helmholtz Network for Bioinformatics: an integrative web portal for bioinformatics resources

Crass T, Antes I, Basekow R, Bork P, Buning C, Christensen M, Claussen H, Ebeling C, Ernst P, Gailus-Durner V, Glatting KH, Gohla R, Gössling F, Grote K, Heidtke K, Herrmann A, O'Keeffe S, Kiesslich O, Kolibal S, Korbel JO, Lengauer T, Liebich I, van der Linden M, Luz H, Meissner K, von Mering C, Mevissen HT, Mewes HW, Michael H, Mokrejs M, Müller T, Pospisil H, Rarey M, Reich JG, Schneider R, Schomburg D, Schulze-Kremer S, Schwarzer K, Sommer I, Springstubbe S, Suhai S, Thoppae G, Vingron M, Warfsmann J, Werner T, Wetzler D, Wingender E, Zimmer R

Bioinformatics (Oxford, England), 2004

doi:10.1093/bioinformatics/btg398.

Compositional asymmetries and predicted origins of replication of the Saccharomyces Cerevisiae genome

Korbel JO, Assmus HE, Kielbasa SM, Herzel H

2004

doi:10.1007/978-1-4419-7152-4_4.

Systematic discovery of analogous enzymes in thiamin biosynthesis

Morett E, Korbel JO, Rajan E, Saab-Rincon G, Olvera L, Olvera M, Schmidt S, Snel B, Bork P

Nature biotechnology, 2003

doi:10.1038/nbt834.

SHOT: a web server for the construction of genome phylogenies

Korbel JO, Snel B, Huynen MA, Bork P

Trends in genetics : TIG, 2002

doi:10.1016/s0168-9525(01)02597-5.