{"id":794,"date":"2022-04-07T13:42:40","date_gmt":"2022-04-07T13:42:40","guid":{"rendered":"https:\/\/www.embl.org\/about\/info\/annual-report\/?page_id=794"},"modified":"2022-06-07T09:18:27","modified_gmt":"2022-06-07T09:18:27","slug":"delving-deeper-into-the-human-genome","status":"publish","type":"page","link":"https:\/\/www.embl.org\/about\/info\/annual-report\/ar2021\/delving-deeper-into-the-human-genome","title":{"rendered":"Delving deeper into the human genome"},"content":{"rendered":"\n\n  <style>\n    .vf-hero {\n              --vf-hero--bg-image: url('https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/05\/20220524_AR2021_banners-scaled.jpg');\n            }\n\n  <\/style>\n<section id=\"\" class=\"vf-hero | vf-u-fullbleed  | vf-u-margin__bottom--0\">\n  <div class=\"vf-hero__content | vf-box | vf-stack vf-stack--400\">\n        <h1 class=\"vf-hero__heading\">\n              Annual Report 2021          <\/h1>\n\n        <p class=\"vf-hero__subheading\">A year of exceptional life science research, training, service, industry collaboration, and integration of European life science research.<\/p>\n    \n    \n      <\/div>\n<\/section>\n<!--\/vf-hero-->\n\n\n\n\n<div class=\"vf-grid | vf-grid__col-3\"><div class=\"vf-grid__col--span-2\"><!--[vf\/content]-->\n<div class=\"vf-content\">\n\n<h1 class=\"wp-block-heading\">Delving deeper into the human genome<\/h1>\n\n\n\n<h2 class=\"wp-block-heading\">EMBL research and tools advance understanding of genetic underpinnings of human disease.<\/h2>\n\n\n\n<figure class=\"vf-figure wp-block-image size-full is-style-default\"><img loading=\"lazy\" decoding=\"async\" width=\"1000\" height=\"600\" class=\"vf-figure__image\" src=\"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/05\/bone-marrow.jpeg\" alt=\"\" class=\"wp-image-2893\" srcset=\"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/05\/bone-marrow.jpeg 1000w, https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/05\/bone-marrow-300x180.jpeg 300w, https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/05\/bone-marrow-768x461.jpeg 768w\" sizes=\"auto, (max-width: 1000px) 100vw, 1000px\" \/><figcaption class=\"vf-figure__caption\">Image of stem cells (blue) in bone marrow, together with a sinusoidal blood vessel (red) and an arteriolar blood vessel (green). MutaSeq, with its single-cell sequencing, is a promising method because it can help discriminate between healthy stem cells and potentially cancerous ones, something not identified by imaging. Credit: Jude Al-Sabah\/DKFZ<\/figcaption><\/figure>\n\n\n\n<p>In 2021, EMBL continued developing new approaches to disentangle the genetic complexity of human diseases, yielding new findings, methods, and tools for the scientific community.<\/p>\n\n\n\n<p>This year, EMBL saw updates to the human reference genomes created over a decade ago. The Korbel group <a href=\"https:\/\/www.embl.org\/news\/science\/hgsvc\/\">co-initiated the reconstruction of the most diverse set of reference human genomes <\/a>ever assembled, including population samples from Africa, North America, East and South Asia, and Europe. Furthermore, EMBL-EBI researchers delved into new sequencing technologies to prove that state-of-the-art long-read sequencing technologies could provide a much more accurate human reference genome.&nbsp;<\/p>\n\n\n\n<p>\u201cOur work to generate a more diverse set of human reference genomes represents a remarkable achievement for the discovery of genetic variation in humans, which can now be studied much more comprehensively, leading the way to better find disease-causing genes,&#8221; said Jan Korbel, EMBL Group Leader.&nbsp;<\/p>\n\n\n\n<p>Age is a factor that adds to the complexity of human diseases, and in 2021 EMBL researchers<a href=\"http:\/\/embl.org\/news\/science\/linking-genetics-and-age-related-diseases\/\"> analysed UK Biobank data<\/a> to reveal that several diseases whose onset occurs at the same age are genetically similar. This suggests they may share a common cause.<\/p>\n\n\n\n<p>Another powerful tool that opened doors for diverse applications was the advancement of single-cell RNA analysis. This approach enabled researchers to find correlations between genetic variants and altered gene expression in human induced pluripotent stem cells (iPSCs). The study<a href=\"https:\/\/www.embl.org\/news\/science\/ipscs-and-disease\/\"> unveiled thousands of genetic variants<\/a>, many of which are linked to diseases.<\/p>\n\n\n\n<p>Researchers also developed MutaSeq, a new single-cell sequencing tool that could help identify new cancer-fighting drugs.<a href=\"https:\/\/www.embl.org\/news\/science\/eradicating-leukaemia\/\"> MutaSeq enables researchers to distinguish individual cancer stem cells<\/a> \u2013 major drivers of cancer relapse \u2013 from mature cancer cells and healthy stem cells.<\/p>\n\n\n\n<p>By utilising single-cell sequencing and honing collaborations, EMBL researchers continue to help understand the genetic basis of diseases, such as cancer.<\/p>\n\n<\/div>\n<\/div>\n\n\n<div class=\"\"><!--[vf\/content]-->\n<div class=\"vf-content\">\n\n<div style=\"height:163px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<article class=\"vf-profile vf-profile--very-easy vf-profile--medium vf-profile--block | vf-u-margin__bottom--400\">\n\n    <img decoding=\"async\" width=\"155\" height=\"175\" src=\"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/04\/Nina-Habermann.jpeg\" class=\"vf-profile__image\" alt=\"\" loading=\"lazy\" itemprop=\"image\" \/>\n    <h3 class=\"vf-profile__title\" style=\"text-align: center;\">\n                                <\/h3>\n    \n    \n    \n      \n\n    \n<\/article>\n\n\n\n<p class=\"has-text-align-left vf-u-text-color--green vf-text--body vf-text-body--2\"><em>&#8220;Nowadays, it\u2019s research collaboration advancing science&nbsp;\u2014 so gratifying to witness how a range of expertise and datasets from around the world combine and yield new insights.\u201d&nbsp;&nbsp;<\/em><\/p>\n\n\n\n<p class=\"has-text-align-left  vf-text--body vf-text-body--5\">\u2014 Nina Habermann, Project &amp; Communications Officer, <a href=\"https:\/\/www.embl.org\/groups\/korbel\/\">Korbel Group<\/a><\/p>\n\n\n\n<div class=\"vf-box vf-box--easy vf-box-theme--tertiary | vf-u-margin__bottom--400\">\n      <h3 class=\"vf-box__heading\">\n                Explore more 2021 EMBL genetic variation research highlights:                  <\/h3> \n        <p class=\"vf-box__text\"><!-- wp:list --><\/p>\n<ul>\n<li><a href=\"https:\/\/www.embl.org\/news\/science\/hgsvc\/\"><span style=\"font-weight: 400;\">Human genomes provide new reference for global genetic diversity\u00a0<\/span><\/a><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"http:\/\/embl.org\/news\/science\/linking-genetics-and-age-related-diseases\/\"><span style=\"font-weight: 400;\">Linking genetics and age-related diseases<\/span><\/a><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.embl.org\/news\/science\/ipscs-and-disease\/\"><span style=\"font-weight: 400;\">Induced pluripotent stem cells reveal causes of disease<\/span><\/a><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.embl.org\/news\/science\/eradicating-leukaemia\/\"><span style=\"font-weight: 400;\">New avenues for eradicating cancer<\/span><\/a><\/li>\n<\/ul>\n<p class=\"vf-box__text\"><!-- \/wp:list --><\/p>\n<\/div>\n\n\n<h3 class=\"wp-block-heading\">References<\/h3>\n\n\n\n<p class=\"vf-text--body vf-text-body--5\">Ebert P <em>et al. <\/em>(2021). <a href=\"https:\/\/science.sciencemag.org\/lookup\/doi\/10.1126\/science.abf7117\">Haplotype-resolved diverse human genomes and integrated analysis of structural variation<\/a><em>. Science, <\/em>25 February 2021. DOI: 10.1126\/science.abf7117<\/p>\n\n\n\n<p class=\"vf-text--body vf-text-body--5\">Donertas MH <em>et al. <\/em>(2021). <a href=\"https:\/\/www.nature.com\/articles\/s43587-021-00051-5\">Common genetic associations between age-related diseases<\/a>. <em>Nature Aging<\/em>, 08 April 2021. DOI: 10.1038\/s43587-021-00051-5<\/p>\n\n\n\n<p class=\"vf-text--body vf-text-body--5\">Bonder MJ, Smail C <em>et al.<\/em> (2021). <a href=\"https:\/\/dx.doi.org\/10.1038\/s41588-021-00800-7\">Identification of rare and common disease variants using population-scale transcriptomics of pluripotent cells<\/a>. <em>Nature Genetics<\/em>, 4 March 2021. DOI: 10.1038\/s41588-021-00800-7<\/p>\n\n\n\n<p class=\"vf-text--body vf-text-body--5\">Jerber J, Seaton DD, Cuomo A <em>et al. <\/em>(2021). <a href=\"https:\/\/dx.doi.org\/10.1038\/s41588-021-00801-6\">Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation<\/a>. <em>Nature Genetics<\/em>, 4 March 2021. DOI: 10.1038\/s41588-021-00801-6<\/p>\n\n\n\n<p class=\"vf-text--body vf-text-body--5\">Velten L <em>et al. <\/em>(2021). <a href=\"https:\/\/www.nature.com\/articles\/s41467-021-21650-1\">Identification of leukemic and pre-leukemic stem cells by clonal tracking from single-cell transcriptomics<\/a>. <em>Nature Communications<\/em>, 1 March 2021. DOI: 10.1038\/s41467-021-21650-1<\/p>\n\n<\/div>\n<\/div>\n<\/div>\n\n\n<style>\n    <\/style>\n\n<section id=\"wp-block-1\">\n  <div class=\"vf-card-container  | vf-u-fullbleed  \n  | vf-u-background-color-ui--grey--light \">\n          <div class=\"vf-section-header | vf-u-margin__bottom--600\">\n        <h2 class=\"vf-section-header__heading\" >\n            <\/h2>\n              <\/div>\n      \n\n<div class=\"embl-grid\"><div class=\"\"><!--[vf\/content]-->\n<div class=\"vf-content\">\n\n<h3 class=\"wp-block-heading\"><a href=\"https:\/\/www.embl.org\/about\/info\/annual-report\/\">Back to Annual report<\/a><\/h3>\n\n<\/div>\n<\/div>\n\n\n<div class=\"\"><!--[vf\/content]-->\n<div class=\"vf-content\">\n\n<article class=\"vf-card vf-card--brand vf-card--bordered vf-u-margin__bottom--800\" default>\n  <img decoding=\"async\" width=\"1000\" height=\"600\" src=\"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/03\/20210820_Hiroki_Asari_Vision_updated_1000px72dpi.jpeg\" class=\"vf-card__image\" alt=\"Artistic representation of the complex cell circuit forming the retina\" loading=\"lazy\" itemprop=\"image\" srcset=\"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/03\/20210820_Hiroki_Asari_Vision_updated_1000px72dpi.jpeg 1000w, https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/03\/20210820_Hiroki_Asari_Vision_updated_1000px72dpi-300x180.jpeg 300w, https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/03\/20210820_Hiroki_Asari_Vision_updated_1000px72dpi-768x461.jpeg 768w\" sizes=\"auto, (max-width: 1000px) 100vw, 1000px\" \/>\n  <div class=\"vf-card__content | vf-stack vf-stack--400\">\n          <h3 class=\"vf-card__heading\">\n                  <a class=\"vf-card__link\" href=\"https:\/\/www.embl.org\/about\/info\/annual-report\/ar2021\/neuronal-connections\" target=\"\">\n        \n        Next Story\n                  <svg aria-hidden=\"true\" class=\"vf-card__heading__icon | vf-icon vf-icon-arrow--inline-end\" width=\"1em\" height=\"1em\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\">\n            <path d=\"M0 12c0 6.627 5.373 12 12 12s12-5.373 12-12S18.627 0 12 0C5.376.008.008 5.376 0 12zm13.707-5.209l4.5 4.5a1 1 0 010 1.414l-4.5 4.5a1 1 0 01-1.414-1.414l2.366-2.367a.25.25 0 00-.177-.424H6a1 1 0 010-2h8.482a.25.25 0 00.177-.427l-2.366-2.368a1 1 0 011.414-1.414z\" fill=\"currentColor\" fill-rule=\"nonzero\"><\/path>\n          <\/svg>\n        <\/a>\n              <\/h3>\n    \n          <p class=\"vf-card__subheading\">Neuronal connections<\/p>\n    \n          <p class=\"vf-card__text\"><span style=\"font-weight: 400;\">From new insights into visual processing to the nervous system of a marine worm, EMBL\u2019s research in 2021 covered a wide range of neuroscience topics.<\/span><\/p>\n      <\/div>\n<\/article>\n\n<\/div>\n<\/div>\n\n\n<div class=\"\"><!--[vf\/content]-->\n<div class=\"vf-content\">\n\n<article class=\"vf-card vf-card--brand vf-card--bordered vf-u-margin__bottom--800\" default>\n      <img decoding=\"async\" src=\"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-content\/uploads\/2022\/06\/AR2021_PDF_mock-up_AdobeStock_182004081.jpg\" class=\"vf-card__image\" alt=\"\" loading=\"lazy\" itemprop=\"image\">\n  \n  <div class=\"vf-card__content | vf-stack vf-stack--400\">\n          <h3 class=\"vf-card__heading\">\n                  <a class=\"vf-card__link\" href=\"https:\/\/www.embl.org\/documents\/document\/annual-report-2021\/\" target=\"_blank\">\n        \n        Download the annual report summary \n                  <svg aria-hidden=\"true\" class=\"vf-card__heading__icon | vf-icon vf-icon-arrow--inline-end\" width=\"1em\" height=\"1em\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\">\n            <path d=\"M0 12c0 6.627 5.373 12 12 12s12-5.373 12-12S18.627 0 12 0C5.376.008.008 5.376 0 12zm13.707-5.209l4.5 4.5a1 1 0 010 1.414l-4.5 4.5a1 1 0 01-1.414-1.414l2.366-2.367a.25.25 0 00-.177-.424H6a1 1 0 010-2h8.482a.25.25 0 00.177-.427l-2.366-2.368a1 1 0 011.414-1.414z\" fill=\"currentColor\" fill-rule=\"nonzero\"><\/path>\n          <\/svg>\n        <\/a>\n              <\/h3>\n    \n    \n          <p class=\"vf-card__text\">A snapshot of EMBL 2021 facts and figures<\/p>\n      <\/div>\n<\/article>\n\n<\/div>\n<\/div>\n<\/div>\n\n\n        <\/div>\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":6,"featured_media":0,"parent":38,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"vf_template_subpage.php","meta":{"_acf_changed":false,"footnotes":""},"embl_taxonomy":[],"class_list":["post-794","page","type-page","status-publish","hentry"],"acf":[],"embl_taxonomy_terms":[],"_links":{"self":[{"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/pages\/794","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/comments?post=794"}],"version-history":[{"count":39,"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/pages\/794\/revisions"}],"predecessor-version":[{"id":3615,"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/pages\/794\/revisions\/3615"}],"up":[{"embeddable":true,"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/pages\/38"}],"wp:attachment":[{"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/media?parent=794"}],"wp:term":[{"taxonomy":"embl_taxonomy","embeddable":true,"href":"https:\/\/www.embl.org\/about\/info\/annual-report\/wp-json\/wp\/v2\/embl_taxonomy?post=794"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}