{"id":36626,"date":"2021-02-25T20:00:38","date_gmt":"2021-02-25T19:00:38","guid":{"rendered":"https:\/\/www.embl.org\/news\/?p=36626"},"modified":"2024-03-22T14:20:14","modified_gmt":"2024-03-22T13:20:14","slug":"hgsvc","status":"publish","type":"post","link":"https:\/\/www.embl.org\/news\/science\/hgsvc\/","title":{"rendered":"Human genomes provide new reference for global genetic diversity"},"content":{"rendered":"\n
\"\"
Comprehensive discovery of genetic variation based on analysis of human genomes of diverse ancestry.
Credit: David Porubsky\/University of Washington<\/figcaption><\/figure>\n\n\n\n

In 2001, the International Human Genome Sequencing Consortium<\/a> announced the first draft of the human genome reference sequence. The Human Genome Project had taken more than 11 years of work and involved more than 1,000 scientists from 40 countries. The reference sequence, however, does not represent a single individual but instead is a composite of genomes from several individuals that cannot accurately capture the complexity of human genetic variation.<\/p>\n\n\n\n

Building on this, scientists have carried out many sequencing projects over the past 20 years to identify and catalogue genetic differences between individual genomes and the reference genome. These differences usually focused on small changes of a single letter of the DNA code and missed larger genetic alterations. Current technologies are now beginning to detect and characterise larger differences \u2013 called structural variants \u2013 such as insertions of several hundred letters. Structural variants are more likely than smaller genetic differences to interfere with gene function.<\/p>\n\n\n\n

EMBL\u2019s Korbel group<\/a>, in partnership with Heinrich Heine University D\u00fcsseldorf<\/a>, The Jackson Laboratory<\/a> in Farmington, Connecticut, and the University of Washington<\/a> in Seattle, has now published an article in Science <\/em>announcing a new, significantly more comprehensive reference dataset obtained using a combination of advanced sequencing and mapping technologies. The new reference dataset contains 64 assembled human genomes, representing 25 human populations from Africa, North America, East and South Asia, and Europe.<\/p>\n\n\n\n

This study builds on a new method published by the researchers last year in Nature Biotechnology<\/em><\/a> to accurately reconstruct the two components of a person\u2019s genome \u2013 one inherited from each of their parents. When assembling a person\u2019s genome, this method relied on a technology provided by EMBL known as Strand-seq to distinguish maternal and paternal DNA sequences.<\/p>\n\n\n\n

\u201c<\/em>For each human individual that participated in the study, we identified not one but two genomes \u2013 one for each set of chromosomes,” explains Jan Korbel, who led the research at EMBL. \u201cHumans have two sets of chromosomes, which they receive from their parents. Previously we could not distinguish whether genetic variation came from one chromosome set or the other. We have now been able to solve this thanks to advances made by the Human Genome Structural Variation Consortium. It 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.\u201d<\/p>\n\n\n\n

The distribution of genetic variants can differ substantially between population groups as a result of spontaneous and continuously occurring changes in the genetic material. If such a mutation is passed on over many generations, it can become a genetic variant specific to that population.<\/p>\n\n\n\n

The new reference data provide an important basis for including the full spectrum of genetic variants in genome-wide association studies, which examine genetic variants across the whole genome to find out whether any variants are associated with specific traits or diseases. The aim is to estimate an individual\u2019s risk of developing diseases such as cancer, and to understand the underlying molecular mechanisms. This, in turn, can be used as a basis for more targeted therapies and preventive medicine.<\/p>\n\n\n\n

This work might enable further applications in precision medicine. Drug efficacy, for example, can vary between individuals based on their genomes. The new reference data now represent the full range of genetic variant types and incorporate human genomes of great diversity. \u201cThese genomes will enable a new wave of scientific discoveries about the biology of the human genome and the connection between genetic variation and disease,\u201d says EMBL researcher and co-first author Bernardo Rodriguez-Martin. \u201cAs an example, we were able to estimate the age of highly mutagenic L1 repeats. Very surprisingly, although these sequences originated up to three million years ago, they continue to mutate the human genome frequently, which occasionally leads to diseases such as cancer.\u201d This new resource might therefore contribute to developing novel approaches in personalised medicine, where the selection of therapies is tailored to a patient\u2019s individual genetic background.<\/p>\n\n\n

\n\n\n

Menschliche Genome als neue Referenz f\u00fcr die globale genetische Vielfalt<\/h1>\n\n\n\n

EMBL-Wissenschaftler mitinitiieren Erstellung des vielf\u00e4ltigsten Satzes menschlicher Referenzgenome, der jemals zusammengestellt wurde<\/h2>\n\n\n\n

Im Jahr 2001 gab das International Human Genome Sequencing Consortium<\/a>den ersten Entwurf der Referenzsequenz des menschlichen Genoms bekannt. Das Humangenomprojekt, wie es genannt wurde, hatte mehr als elf Jahre Arbeit in Anspruch genommen und mehr als 1000 Wissenschaftler aus 40 L\u00e4ndern beteiligt. Diese Referenz repr\u00e4sentierte jedoch kein einzelnes Individuum, sondern ein Gemisch von Menschen, das die Komplexit\u00e4t der menschlichen genetischen Variation nicht genau erfassen konnte.<\/p>\n\n\n\n

Darauf aufbauend haben Wissenschaftler in den letzten 20 Jahren viele Sequenzierprojekte durchgef\u00fchrt, um genetische Unterschiede zwischen individuellen Genomen und dem Referenzgenom zu identifizieren und zu katalogisieren. Diese Unterschiede konzentrierten sich in der Regel auf \u00c4nderungen einzelner Buchstaben des DNA-Codes und lie\u00dfen gr\u00f6\u00dfere genetische Ver\u00e4nderungen au\u00dfer Acht. Moderne Technologien beginnen nun, gr\u00f6\u00dfere Unterschiede \u2013  sogenannte strukturelle Varianten \u2013 zu erkennen und zu charakterisieren. Strukturelle Varianten sind wahrscheinlicher als kleinere genetische Unterschiede, beteiligt wenn Genfunktionen durch Mutationen beeintr\u00e4chtigt werden.<\/p>\n\n\n\n

Die Korbel-Gruppe am EMBL<\/a> hat nun in Zusammenarbeit mit der Heinrich-Heine-Universit\u00e4t D\u00fcsseldorf<\/a>, dem Jackson Laboratory<\/a> in Farmington, Connecticut, und der Universit\u00e4t Washington<\/a> in Seattle einen Artikel in der Zeitschrift Science<\/em> ver\u00f6ffentlicht, in dem sie einen neuen, wesentlich umfangreicheren Referenzdatensatz vorstellen, der mit einer Kombination aus fortschrittlichen Sequenzier- und Kartierungstechnologien gewonnen wurde. Der neue Referenzdatensatz enth\u00e4lt 64 menschliche Genome, die 25 menschliche Populationen aus Afrika, Nordamerika, Ost- und S\u00fcdasien und Europa repr\u00e4sentieren.<\/p>\n\n\n\n

Diese Studie baut auf einer neuen Methode auf, die von der Forschungsgruppe letztes Jahr in Nature Biotechnology<\/em> ver\u00f6ffentlicht wurde<\/a>. Mit dieser lassen sich die beiden Komponenten des Genoms \u2013 die v\u00e4terliche und die m\u00fctterliche \u2013 einer Person genau rekonstruieren. Beim Zusammensetzen des Genoms einer Person nutzt diese Methode eine vom EMBL bereitgestellte Technologie, das sogenannte Strand-seq, um die beiden DNA-Sequenzen zu unterscheiden.<\/p>\n\n\n\n

\u201eF\u00fcr jedes menschliche Individuum, das an der Studie teilgenommen hat, haben wir nicht ein, sondern zwei Genome identifiziert – eines f\u00fcr jeden Chromosomensatz,\u201c erkl\u00e4rt Jan Korbel, der die Forschung am EMBL geleitet hat. \u201eDer Mensch hat zwei Chromosomens\u00e4tze, die er von seinen Eltern erh\u00e4lt. Bisher konnten wir nicht unterscheiden, ob die genetische Variation von dem einen oder dem anderen Chromosomensatz stammt. Dies konnten wir nun dank der Fortschritte des Konsortiums l\u00f6sen. Das ist ein bemerkenswerter Erfolg f\u00fcr die Entdeckung genetischer Variationen beim Menschen, die nun viel umfassender untersucht werden k\u00f6nnen, was wiederum den Weg zu einer besseren Suche nach krankheitsverursachenden Genen ebnet.\u201c<\/p>\n\n\n\n

Die Verteilung der genetischen Varianten kann sich durch spontane und kontinuierlich auftretende Ver\u00e4nderungen im Erbgut zwischen Bev\u00f6lkerungsgruppen erheblich unterscheiden. Wird eine solche Mutation \u00fcber viele Generationen weitergegeben, kann sie zu einer f\u00fcr diese Population spezifischen genetischen Variante werden.<\/p>\n\n\n\n

Die neuen Referenzdaten bilden eine wichtige Grundlage f\u00fcr die Einbeziehung des gesamten Spektrums genetischer Varianten in genomweite Assoziationsstudien. Bei diesen werden genetische Varianten \u00fcber das gesamte Genom hinweg untersucht, um herauszufinden, ob bestimmte Varianten mit bestimmten Merkmalen oder Krankheiten assoziiert sind. Ziel ist es, das individuelle Risiko f\u00fcr die Entstehung von Krankheiten \u2013 wie etwa Krebs \u2013 abzusch\u00e4tzen und die zugrunde liegenden molekularen Mechanismen zu verstehen. Dies wiederum kann als Grundlage f\u00fcr gezieltere Therapien und Pr\u00e4ventivmedizin genutzt werden.<\/p>\n\n\n\n

\u201eDiese Genome werden den Weg f\u00fcr eine neue Welle wissenschaftlicher Entdeckungen \u00fcber die Biologie des menschlichen Genoms und den Zusammenhang zwischen genetischer Variation und Krankheit ebnen,\u201c sagt EMBL-Forscher und Co-Erstautor Bernardo Rodriguez-Martin. Er f\u00fcgt hinzu: \u201eWir konnten zum Beispiel das Alter von hoch mutagenen L1-Elementen im Erbgut absch\u00e4tzen. Sehr \u00fcberraschend ist, dass diese Sequenzen, obwohl sie vor bis zu drei Millionen Jahren entstanden sind, immer noch h\u00e4ufig im menschlichen Genom mutieren, was gelegentlich zu Krankheiten wie Krebs f\u00fchrt.\u201c So k\u00f6nnte diese neue Ressource dazu beitragen, neue Ans\u00e4tze in der personalisierten Medizin zu entwickeln, bei der die Auswahl von Therapien auf den individuellen genetischen Hintergrund eines Patienten zugeschnitten wird.<\/p>\n\n\n

\n\n\n

Nuevos genomas proveen una referencia para la diversidad gen\u00e9tica humana<\/h1>\n\n\n\n

Cient\u00edficos del EMBL, junto con otros investigadores, han empezado la reconstrucci\u00f3n del conjunto m\u00e1s diverso de genomas de referencia jam\u00e1s reunido<\/h2>\n\n\n\n

En 2001, el Consorcio Internacional de Secuenciaci\u00f3n del Genoma Humano anunci\u00f3 el primer borrador de la secuencia de referencia del genoma humano. El Proyecto Genoma Humano hab\u00eda llevado m\u00e1s de once a\u00f1os de trabajo e involucr\u00f3 a m\u00e1s de 1000 cient\u00edficos de 40 pa\u00edses. Esta secuencia de referencia, sin embargo, no representa a una sola persona, sino que es una combinaci\u00f3n de humanos, que no puede capturar con precisi\u00f3n la complejidad de la variaci\u00f3n gen\u00e9tica humana.<\/p>\n\n\n\n

Sobre esta base, durante los \u00faltimos 20 a\u00f1os, se han llevado a cabo muchos proyectos de secuenciaci\u00f3n para identificar y catalogar las diferencias gen\u00e9ticas entre un individuo y el genoma de referencia. Esas diferencias generalmente consist\u00edan en peque\u00f1os cambios de una sola base y pasaban por alto alteraciones gen\u00e9ticas m\u00e1s grandes. Las tecnolog\u00edas actuales ahora pueden comenzar a detectar y caracterizar diferencias m\u00e1s significativas, llamadas variantes estructurales, como inserciones de varios cientos de letras. Las variantes estructurales tienen m\u00e1s probabilidades de interferir con la funci\u00f3n gen\u00e9tica que las diferencias gen\u00e9ticas m\u00e1s peque\u00f1as.<\/p>\n\n\n\n

El grupo de investigaci\u00f3n del EMBL liderado por Jan Korbel<\/a>, en asociaci\u00f3n con la Universidad Heinrich Heine de D\u00fcsseldorf<\/a>, el Laboratorio Jackson<\/a> en Farmington, Connecticut, y la Universidad de Washington<\/a> en Seattle, ha publicado un art\u00edculo en la revista Science en el que ha anunciado un nuevo conjunto de datos de referencia mucho m\u00e1s completo obtenido utilizando una combinaci\u00f3n de tecnolog\u00edas avanzadas de secuenciaci\u00f3n y mapeo. El nuevo conjunto de datos de referencia consiste en 64 genomas humanos ensamblados, que representan 25 poblaciones humanas diferentes de \u00c1frica, Am\u00e9rica del Norte, Asia Oriental y Meridional, y Europa.<\/p>\n\n\n\n

Este estudio se basa en un nuevo m\u00e9todo publicado por estos investigadores el a\u00f1o pasado en la revista Nature Biotechnology<\/a> para reconstruir con precisi\u00f3n los dos componentes del genoma de una persona: el heredado por cada uno de los progenitores. Al ensamblar el genoma de una persona, este m\u00e9todo utiliza una tecnolog\u00eda desarrollada por el EMBL (denominada Strand-seq) para distinguir las secuencias de ADN paternas y maternas.<\/p>\n\n\n\n

“Para cada persona que ha participado en el estudio, identificamos no uno, sino dos genomas, uno para cada conjunto de cromosomas”, explica Jan Korbel, quien dirigi\u00f3 la investigaci\u00f3n en el EMBL. “Los seres humanos tenemos dos conjuntos de los cromosomas que recibimos de nuestros padres. Anteriormente, no pod\u00edamos distinguir si la variaci\u00f3n gen\u00e9tica proven\u00eda de los cromosomas del uno o del otro. En cambio, gracias a los avances realizados por el Consorcio de Variaci\u00f3n Estructural del Genoma Humano, ahora s\u00ed hemos sido capaces de hacerlo. Se trata de un logro extraordinario para estudiar la variaci\u00f3n gen\u00e9tica en humanos, que ahora se puede estudiar de manera mucho m\u00e1s completa, lo que abre el camino para encontrar genes causantes de enfermedades”.<\/p>\n\n\n\n

La distribuci\u00f3n de variantes gen\u00e9ticas puede diferir sustancialmente entre grupos de poblaci\u00f3n como resultado de cambios espont\u00e1neos y que ocurren continuamente en el material gen\u00e9tico. Si dicha mutaci\u00f3n se transmite a lo largo de muchas generaciones, puede convertirse en una variante gen\u00e9tica espec\u00edfica de esa poblaci\u00f3n. <\/p>\n\n\n\n

Los nuevos datos de referencia proporcionan una base importante para incluir en los denominados estudios de asociaci\u00f3n de todo el genoma el espectro completo de variantes gen\u00e9ticas. El objetivo es estimar el riesgo individual de desarrollar ciertas enfermedades como el c\u00e1ncer y comprender los mecanismos moleculares subyacentes. Esto, a su vez, puede usarse como base para terapias m\u00e1s dirigidas y medicina preventiva.<\/p>\n\n\n\n

Este trabajo podr\u00eda permitir nuevas aplicaciones en la medicina de precisi\u00f3n. La eficacia de un f\u00e1rmaco, por ejemplo, puede variar entre individuos en funci\u00f3n de sus genomas. Los nuevos datos de referencia ahora representan la gama completa de diferentes tipos de variantes gen\u00e9ticas e incorporan genomas humanos de gran diversidad. \u201cEstos genomas abrir\u00e1n el camino hacia una nueva ola de descubrimientos cient\u00edficos sobre la biolog\u00eda del genoma humano y la conexi\u00f3n entre variaci\u00f3n gen\u00e9tica y enfermedades\u201d, dice el investigador del EMBL y co-primer autor Bernardo Rodr\u00edguez-Mart\u00edn. \u201cComo ejemplo, hemos podido estimar la edad de las repeticiones altamente mutag\u00e9nicas de L1. Sorprendentemente, aunque estas secuencias se originaron hace un m\u00e1ximo de tres millones de a\u00f1os, contin\u00faan mutando el genoma humano con frecuencia, cosa que ocasionalmente conduce a enfermedades como el c\u00e1ncer\u201d. Este nuevo recurso podr\u00eda contribuir al desarrollo de enfoques novedosos en la medicina personalizada, en la que la selecci\u00f3n de terapias se adapta a los antecedentes gen\u00e9ticos individuales de cada paciente.<\/p>\n","protected":false},"excerpt":{"rendered":"

A collaboration including EMBL scientists has created the most diverse set of reference human genomes ever assembled.<\/p>\n","protected":false},"author":71,"featured_media":36694,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[2,17591],"tags":[664,420,2032],"embl_taxonomy":[19305],"class_list":["post-36626","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science","category-science-technology","tag-genome","tag-korbel","tag-sequencing","embl_taxonomy-korbel-group"],"acf":{"featured":true,"show_featured_image":true,"color":"#007B53","link_color":"#fff","article_intro":"

EMBL scientists co-initiated the reconstruction of the most diverse set of reference human genomes ever assembled<\/p>\n","related_links":[{"link_description":"Korbel group","link_url":"https:\/\/www.embl.org\/groups\/korbel\/"},{"link_description":"Human Genome Structural Variation Consortium","link_url":"https:\/\/www.internationalgenome.org\/human-genome-structural-variation-consortium\/"},{"link_description":"Heinrich Heine University D\u00fcsseldorf","link_url":"https:\/\/www.hhu.de\/"},{"link_description":"The Jackson Laboratory","link_url":"https:\/\/www.jax.org\/"},{"link_description":"University of Washington","link_url":"https:\/\/www.washington.edu\/"}],"article_sources":[{"source_description":"

Peter Ebert, et al<\/em>. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science<\/em>, published on 25 February 2021<\/p>\n","source_link_url":"https:\/\/science.sciencemag.org\/lookup\/doi\/10.1126\/science.abf7117"}],"in_this_article":[{"heading_description":"","anchor":""},{"heading_description":"","anchor":""}],"youtube_url":"","mp4_url":"","video_caption":"","press_contact":"EMBL Generic","vf_locked":false,"field_target_display":"embl","source_article":false},"embl_taxonomy_terms":[{"uuid":"a:3:{i:0;s:36:\"302cfdf7-365b-462a-be65-82c7b783ebf7\";i:1;s:36:\"fe59a59f-fd7d-49b3-b3e4-bdd33a6642c3\";i:2;s:36:\"ea772278-0afe-4a84-8ef0-0f426d78ea42\";}","parents":[],"name":["Korbel Group"],"slug":"korbel-group","description":"What > Genome Biology > Korbel Group"}],"yoast_head":"\nHuman genomes provide new reference for global genetic diversity | EMBL<\/title>\n<meta name=\"description\" content=\"A collaboration including EMBL scientists has created the most diverse set of reference human genomes ever assembled.\" \/>\n<meta name=\"robots\" content=\"index, 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