{"id":29640,"date":"2020-06-30T10:00:00","date_gmt":"2020-06-30T08:00:00","guid":{"rendered":"https:\/\/www.embl.org\/news\/?p=29640"},"modified":"2024-03-22T13:22:55","modified_gmt":"2024-03-22T12:22:55","slug":"human-genome-phenome-archive","status":"publish","type":"post","link":"https:\/\/www.embl.org\/news\/lab-matters\/human-genome-phenome-archive\/","title":{"rendered":"EMBL boosts national and international sharing of genomic data"},"content":{"rendered":"\n

In Germany, there is currently a lack of infrastructure to deal with high-volume biological and biomedical data, such as data found in medical records. Two important types of data are genomic data, which contains information on an individual\u2019s genetic code, and phenomic data, which is about an individual\u2019s observable traits, arising from interactions between their genes and the environment. Both types of data are already generated on a large scale across Germany, but legal, ethical, and technical issues limit access to and reuse of such data for research purposes.<\/p>\n\n\n\n

The German Human Genome\u2013Phenome Archive<\/a> (GHGA), which has just received a funding commitment from the German research foundation DFG, will address the need for access to genomic and phenomic data within an ethical and legal framework. By establishing a German data archive and analytics platform, German scientists will have increased opportunities to participate in key international research networks.<\/p>\n\n\n\n

Genome research plays a central role in modern health research and is already contributing to better patient care. In cancer research, for example, the analysis of individual tumour genomes can reveal genetic changes in order to treat them with targeted therapies. Genomic analyses are also increasingly used to decipher the genetic causes of rare diseases.<\/p>\n\n\n\n

By establishing a standardised infrastructure for processing large volumes of data, the research community in Germany will benefit from more streamlined processes and the centralised nature of the data. \u201cThe archive will provide greater opportunities to foster responsible data sharing throughout Germany and Europe overall,\u201d says Jan Korbel, a group leader at EMBL Heidelberg<\/a> and one of the directors of the GHGA. \u201cIt will also enable us to better train the next generation of scientists in efficient, responsible use of data and management of biological and biomedical data in research.\u201d<\/p>\n\n\n\n

The consortium, led by the DKFZ<\/a>, brings together expertise from across Germany and Europe, including EMBL. It builds on and extends existing reliable and secure high-performance computing infrastructures to form a network of data hubs that German scientists will be able to access. This national infrastructure will be connected to institutes generating data throughout Germany, and will make the data accessible in a seamless manner.<\/p>\n\n\n\n

\u201cWe are proud that EMBL is part of this consortium,\u201d says Oliver Stegle, another director of the GHGA<\/a>, associated with both the DKFZ and EMBL. \u201cWe bring our expertise to the table in handling large genomic datasets from multiple institutions. For decades, EMBL has been a great supporter of data archiving and exchange, and we are very pleased that we now have the opportunity to contribute to a better dissemination of genomic data in Germany.\u201d<\/p>\n\n\n\n

\u201cThe GHGA will closely interact with the European Genome\u2013Phenome Archive at EMBL-EBI, and participate as a node within the future EGA federation network. This novel structure will enable a more rapid exchange of human genomic research data from Germany with international communities,\u201d says Korbel.<\/p>\n\n\n\n

The GHGA consortium will work closely with ethical and legal experts to ensure the highest standards of data processing and data security. The archive will boost genome research in Germany, enabling German research expertise to advance wider research efforts across Europe.<\/p>\n\n\n

\n\n\n

EMBL f\u00f6rdert den nationalen und internationalen Austausch genomischer Daten<\/strong><\/h2>\n\n\n\n

Ein nationales Konsortium, dem das EMBL und das Deutsche Krebsforschungszentrum (DKFZ) angeh\u00f6ren, hat das Deutsche Humangenom-Phenom-Archiv ins Leben gerufen und damit eine unsch\u00e4tzbare Br\u00fccke zwischen biomedizinischer Grundlagenforschung und angewandter Gesundheitsversorgung geschlagen.<\/strong><\/p>\n\n\n\n

In Deutschland mangelt es derzeit an der notwendigen Infrastruktur um gro\u00dfe Mengen an biologischen und biomedizinischen Daten, wie z.B. Daten aus Krankenakten, zu handhaben. Besonders eklatant ist dies f\u00fcr genomische Daten, die Informationen \u00fcber den genetischen Code eines Individuums enthalten, und ph\u00e4nomische Daten, bei denen es um die beobachtbaren Merkmale eines Individuums geht, die sich aus den Wechselwirkungen zwischen seinen Genen und der Umwelt ergeben. Beide Arten von Daten werden bereits in gro\u00dfem Ma\u00dfstab in ganz Deutschland generiert, aber rechtliche, ethische und technische Fragen schr\u00e4nken den Zugang zu solchen Daten und ihre Wiederverwendung zu Forschungszwecken ein.<\/p>\n\n\n\n

Das Deutsche Humangenom-Phenom-Archiv<\/a> (GHGA), das gerade eine F\u00f6rderzusage der Deutschen Forschungsgemeinschaft (DFG) erhalten hat, wird sich mit der Notwendigkeit des Zugangs zu genomischen und ph\u00e4nomenologischen Daten innerhalb eines ethischen und rechtlichen Rahmens befassen. Durch den Aufbau eines deutschen Datenarchivs und einer deutschen Analyseplattform erhalten deutsche Wissenschaftlerinnen und Wissenschaftler mehr M\u00f6glichkeiten, sich an wichtigen internationalen Forschungsnetzwerken zu beteiligen.<\/p>\n\n\n\n

Die Genomforschung spielt eine zentrale Rolle in der modernen Gesundheitsforschung und tr\u00e4gt bereits heute zu einer besseren Patientenversorgung bei. In der Krebsforschung kann zum Beispiel die Analyse des individuellen Tumorgenoms genetische Ver\u00e4nderungen aufdecken, um sie mit gezielten Therapien zu behandeln. Zunehmend werden Genomanalysen auch eingesetzt, um die genetischen Ursachen seltener Krankheiten zu entschl\u00fcsseln.<\/p>\n\n\n\n

Durch den Aufbau einer standardisierten Infrastruktur zur Verarbeitung gro\u00dfer Datenmengen profitiert die Forschung in Deutschland von schlankeren Prozessen und der Zentralisierung der Daten. \u201eDas Archiv wird zahlreiche M\u00f6glichkeiten bieten, einen verantwortungsvollen Datenaustausch in Deutschland und Europa insgesamt zu f\u00f6rdern,\u201c sagt Jan Korbel, Gruppenleiter am EMBL Heidelberg<\/a> und einer der Direktoren der GHGA. \u201eEs wird uns auch in die Lage versetzen, die n\u00e4chste Generation von Wissenschaftlern besser in der effizienten, verantwortungsvollen Nutzung von Daten und im Management biologischer und biomedizinischer Daten in der Forschung auszubilden.\u201c<\/p>\n\n\n\n

Das vom DKFZ<\/a> geleitete Konsortium vereint Fachwissen aus ganz Deutschland und Europa, einschlie\u00dflich des EMBL. Es baut auf bestehenden zuverl\u00e4ssigen und sicheren Hochleistungsrechner-Infrastrukturen auf und erweitert diese zu einem Netz von Datenknotenpunkten, auf die deutsche Wissenschaftler zugreifen k\u00f6nnen. Diese nationale Infrastruktur wird mit datenerzeugenden Instituten in ganz Deutschland verbunden sein und die Daten so nahtlos zug\u00e4nglich machen.<\/p>\n\n\n\n

\u201eWir sind stolz darauf, dass das EMBL Teil dieses Konsortiums ist,\u201c sagt Oliver Stegle, ein weiterer Direktor der GHGA<\/a> und sowohl mit dem DKFZ als auch dem EMBL assoziiert. \u201eWir bringen unsere Expertise im Umgang mit gro\u00dfen genomischen Datens\u00e4tzen aus verschiedenen Institutionen ein. Das EMBL ist seit Jahrzehnten ein gro\u00dfer Bef\u00fcrworter der Datenarchivierung und des Datenaustauschs, und wir freuen uns sehr, dass wir nun die M\u00f6glichkeit haben, zu einer besseren Verbreitung genomischer Daten in Deutschland beizutragen.\u201c<\/p>\n\n\n\n

\u201eDie GHGA wird eng mit dem Europ\u00e4ischen Genom-Phenom-Archiv am EMBL-EBI zusammenarbeiten und als Knotenpunkt innerhalb des k\u00fcnftigen Verbundsnetzwerks des Europ\u00e4ischen Genom-Phenom-Archivs teilnehmen. Diese neuartige Struktur wird einen schnelleren Austausch humangenomischer Forschungsdaten aus Deutschland mit internationalen Gemeinschaften erm\u00f6glichen,\u201c so Korbel.<\/p>\n\n\n\n

Das GHGA-Konsortium wird eng mit Ethik- und Rechtsexperten zusammenarbeiten, um h\u00f6chste Standards bei der Datenverarbeitung und Datensicherheit zu gew\u00e4hrleisten. Das Archiv wird die Genomforschung in Deutschland ankurbeln und die deutsche Forschungsexpertise in die Lage versetzen, breitere Forschungsanstrengungen in ganz Europa voranzutreiben.<\/p>\n","protected":false},"excerpt":{"rendered":"

A national consortium including EMBL and the DKFZ is set to launch the German Human Genome\u2013Phenome Archive, creating an invaluable bridge between fundamental biomedical research and applied healthcare.<\/p>\n","protected":false},"author":73,"featured_media":18061,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[17595,3],"tags":[1307,664,43,420,4690,5686,470],"embl_taxonomy":[18961,19305,19073],"class_list":["post-29640","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-connections","category-lab-matters","tag-dkfz","tag-genome","tag-heidelberg","tag-korbel","tag-phenome","tag-rare-disease","tag-stegle","embl_taxonomy-jan-korbel","embl_taxonomy-korbel-group","embl_taxonomy-oliver-stegle"],"acf":{"featured":true,"color":"#007B53","show_featured_image":false,"article_intro":"

A national consortium including EMBL and the German Cancer Research Center (DKFZ) is set to launch the German Human Genome\u2013Phenome Archive, creating an invaluable bridge between fundamental biomedical research and applied healthcare.<\/p>\n","article_sources":false,"related_links":[{"link_description":"German Human Genome\u2013Phenome Archive","link_url":"https:\/\/ghga.dkfz.de\/"},{"link_description":"Korbel Group at EMBL Heidelberg","link_url":"https:\/\/www.embl.de\/research\/units\/genome_biology\/korbel\/index.html"},{"link_description":"Stegle Group at EMBL Heidelberg","link_url":"https:\/\/www.embl.de\/research\/units\/genome_biology\/stegle\/index.html"},{"link_description":"German Cancer Research Center (DKFZ)","link_url":"https:\/\/www.dkfz.de\/de\/index.html"}],"in_this_article":false,"youtube_url":"","mp4_url":"","video_caption":"","link_color":"#fff","press_contact":"EMBL 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