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  1. Article ; Online: BioSamples database: FAIRer samples metadata to accelerate research data management.

    Courtot, Mélanie / Gupta, Dipayan / Liyanage, Isuru / Xu, Fuqi / Burdett, Tony

    Nucleic acids research

    2021  Volume 50, Issue D1, Page(s) D1500–D1507

    Abstract: The BioSamples database at EMBL-EBI is the central institutional repository for sample metadata storage and connection to EMBL-EBI archives and other resources. The technical improvements to our infrastructure described in our last update have enabled us ...

    Abstract The BioSamples database at EMBL-EBI is the central institutional repository for sample metadata storage and connection to EMBL-EBI archives and other resources. The technical improvements to our infrastructure described in our last update have enabled us to scale and accommodate an increasing number of communities, resulting in a higher number of submissions and more heterogeneous data. The BioSamples database now has a valuable set of features and processes to improve data quality in BioSamples, and in particular enriching metadata content and following FAIR principles. In this manuscript, we describe how BioSamples in 2021 handles requirements from our community of users through exemplar use cases: increased findability of samples and improved data management practices support the goals of the ReSOLUTE project, how the plant community benefits from being able to link genotypic to phenotypic information, and we highlight how cumulatively those improvements contribute to more complex multi-omics data integration supporting COVID-19 research. Finally, we present underlying technical features used as pillars throughout those use cases and how they are reused for expanded engagement with communities such as FAIRplus and the Global Alliance for Genomics and Health. Availability: The BioSamples database is freely available at http://www.ebi.ac.uk/biosamples. Content is distributed under the EMBL-EBI Terms of Use available at https://www.ebi.ac.uk/about/terms-of-use. The BioSamples code is available at https://github.com/EBIBioSamples/biosamples-v4 and distributed under the Apache 2.0 license.
    MeSH term(s) COVID-19/genetics ; COVID-19/virology ; Databases, Factual ; Gene Expression Profiling ; Genomics ; Host-Pathogen Interactions/physiology ; Humans ; Metadata ; Phenotype ; Plant Physiological Phenomena/genetics ; SARS-CoV-2/genetics
    Language English
    Publishing date 2021-11-08
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gkab1046
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The European Nucleotide Archive in 2023.

    Yuan, David / Ahamed, Alisha / Burgin, Josephine / Cummins, Carla / Devraj, Rajkumar / Gueye, Khadim / Gupta, Dipayan / Gupta, Vikas / Haseeb, Muhammad / Ihsan, Maira / Ivanov, Eugene / Jayathilaka, Suran / Kadhirvelu, Vishnukumar Balavenkataraman / Kumar, Manish / Lathi, Ankur / Leinonen, Rasko / McKinnon, Jasmine / Meszaros, Lili / O'Cathail, Colman /
    Ouma, Dennis / Paupério, Joana / Pesant, Stephane / Rahman, Nadim / Rinck, Gabriele / Selvakumar, Sandeep / Suman, Swati / Sunthornyotin, Yanisa / Ventouratou, Marianna / Vijayaraja, Senthilnathan / Waheed, Zahra / Woollard, Peter / Zyoud, Ahmad / Burdett, Tony / Cochrane, Guy

    Nucleic acids research

    2023  Volume 52, Issue D1, Page(s) D92–D97

    Abstract: The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena) is maintained by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI). The ENA is one of the three members of the International Nucleotide Sequence ... ...

    Abstract The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena) is maintained by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI). The ENA is one of the three members of the International Nucleotide Sequence Database Collaboration (INSDC). It serves the bioinformatics community worldwide via the submission, processing, archiving and dissemination of sequence data. The ENA supports data types ranging from raw reads, through alignments and assemblies to functional annotation. The data is enriched with contextual information relating to samples and experimental configurations. In this article, we describe recent progress and improvements to ENA services. In particular, we focus upon three areas of work in 2023: FAIRness of ENA data, pandemic preparedness and foundational technology. For FAIRness, we have introduced minimal requirements for spatiotemporal annotation, created a metadata-based classification system, incorporated third party metadata curations with archived records, and developed a new rapid visualisation platform, the ENA Notebooks. For foundational enhancements, we have improved the INSDC data exchange and synchronisation pipelines, and invested in site reliability engineering for ENA infrastructure. In order to support genomic surveillance efforts, we have continued to provide ENA services in support of SARS-CoV-2 data mobilisation and have adapted these for broader pathogen surveillance efforts.
    MeSH term(s) Computational Biology ; Databases, Nucleic Acid ; Genomics ; Internet ; Nucleotides ; Reproducibility of Results ; Europe
    Chemical Substances Nucleotides
    Language English
    Publishing date 2023-11-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gkad1067
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Mobilisation and analyses of publicly available SARS-CoV-2 data for pandemic responses.

    Rahman, Nadim / O'Cathail, Colman / Zyoud, Ahmad / Sokolov, Alexey / Oude Munnink, Bas / Grüning, Björn / Cummins, Carla / Amid, Clara / Nieuwenhuijse, David F / Visontai, Dávid / Yuan, David Yu / Gupta, Dipayan / Prasad, Divyae K / Gulyás, Gábor Máté / Rinck, Gabriele / McKinnon, Jasmine / Rajan, Jeena / Knaggs, Jeff / Skiby, Jeffrey Edward /
    Stéger, József / Szarvas, Judit / Gueye, Khadim / Papp, Krisztián / Hoek, Maarten / Kumar, Manish / Ventouratou, Marianna A / Bouquieaux, Marie-Catherine / Koliba, Martin / Mansurova, Milena / Haseeb, Muhammad / Worp, Nathalie / Harrison, Peter W / Leinonen, Rasko / Thorne, Ross / Selvakumar, Sandeep / Hunt, Sarah / Venkataraman, Sundar / Jayathilaka, Suran / Cezard, Timothée / Maier, Wolfgang / Waheed, Zahra / Iqbal, Zamin / Aarestrup, Frank Møller / Csabai, Istvan / Koopmans, Marion / Burdett, Tony / Cochrane, Guy

    Microbial genomics

    2024  Volume 10, Issue 2

    Abstract: The COVID-19 pandemic has seen large-scale pathogen genomic sequencing efforts, becoming part of the toolbox for surveillance and epidemic research. This resulted in an unprecedented level of data sharing to open repositories, which has actively ... ...

    Abstract The COVID-19 pandemic has seen large-scale pathogen genomic sequencing efforts, becoming part of the toolbox for surveillance and epidemic research. This resulted in an unprecedented level of data sharing to open repositories, which has actively supported the identification of SARS-CoV-2 structure, molecular interactions, mutations and variants, and facilitated vaccine development and drug reuse studies and design. The European COVID-19 Data Platform was launched to support this data sharing, and has resulted in the deposition of several million SARS-CoV-2 raw reads. In this paper we describe (1) open data sharing, (2) tools for submission, analysis, visualisation and data claiming (e.g. ORCiD), (3) the systematic analysis of these datasets, at scale via the SARS-CoV-2 Data Hubs as well as (4) lessons learnt. This paper describes a component of the Platform, the SARS-CoV-2 Data Hubs, which enable the extension and set up of infrastructure that we intend to use more widely in the future for pathogen surveillance and pandemic preparedness.
    MeSH term(s) Humans ; SARS-CoV-2/genetics ; Pandemics ; COVID-19/epidemiology ; Genomics ; Information Dissemination
    Language English
    Publishing date 2024-03-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 2835258-0
    ISSN 2057-5858 ; 2057-5858
    ISSN (online) 2057-5858
    ISSN 2057-5858
    DOI 10.1099/mgen.0.001188
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The European Nucleotide Archive in 2022.

    Burgin, Josephine / Ahamed, Alisha / Cummins, Carla / Devraj, Rajkumar / Gueye, Khadim / Gupta, Dipayan / Gupta, Vikas / Haseeb, Muhammad / Ihsan, Maira / Ivanov, Eugene / Jayathilaka, Suran / Balavenkataraman Kadhirvelu, Vishnukumar / Kumar, Manish / Lathi, Ankur / Leinonen, Rasko / Mansurova, Milena / McKinnon, Jasmine / O'Cathail, Colman / Paupério, Joana /
    Pesant, Stéphane / Rahman, Nadim / Rinck, Gabriele / Selvakumar, Sandeep / Suman, Swati / Vijayaraja, Senthilnathan / Waheed, Zahra / Woollard, Peter / Yuan, David / Zyoud, Ahmad / Burdett, Tony / Cochrane, Guy

    Nucleic acids research

    2022  Volume 51, Issue D1, Page(s) D121–D125

    Abstract: The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena), maintained by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI), offers those producing data an open and supported platform for the management, ... ...

    Abstract The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena), maintained by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI), offers those producing data an open and supported platform for the management, archiving, publication, and dissemination of data; and to the scientific community as a whole, it offers a globally comprehensive data set through a host of data discovery and retrieval tools. Here, we describe recent updates to the ENA's submission and retrieval services as well as focused efforts to improve connectivity, reusability, and interoperability of ENA data and metadata.
    MeSH term(s) Academies and Institutes ; Computational Biology ; Databases, Nucleic Acid ; Internet ; Software ; Datasets as Topic
    Language English
    Publishing date 2022-11-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gkac1051
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: The European Nucleotide Archive in 2021.

    Cummins, Carla / Ahamed, Alisha / Aslam, Raheela / Burgin, Josephine / Devraj, Rajkumar / Edbali, Ossama / Gupta, Dipayan / Harrison, Peter W / Haseeb, Muhammad / Holt, Sam / Ibrahim, Talal / Ivanov, Eugene / Jayathilaka, Suran / Kadhirvelu, Vishnukumar / Kay, Simon / Kumar, Manish / Lathi, Ankur / Leinonen, Rasko / Madeira, Fabio /
    Madhusoodanan, Nandana / Mansurova, Milena / O'Cathail, Colman / Pearce, Matt / Pesant, Stéphane / Rahman, Nadim / Rajan, Jeena / Rinck, Gabriele / Selvakumar, Sandeep / Sokolov, Alexey / Suman, Swati / Thorne, Ross / Totoo, Prabhat / Vijayaraja, Senthilnathan / Waheed, Zahra / Zyoud, Ahmad / Lopez, Rodrigo / Burdett, Tony / Cochrane, Guy

    Nucleic acids research

    2021  Volume 50, Issue D1, Page(s) D106–D110

    Abstract: The European Nucleotide Archive (ENA, https://www.ebi.ac.uk/ena), maintained at the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI) provides freely accessible services, both for deposition of, and access to, open ... ...

    Abstract The European Nucleotide Archive (ENA, https://www.ebi.ac.uk/ena), maintained at the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI) provides freely accessible services, both for deposition of, and access to, open nucleotide sequencing data. Open scientific data are of paramount importance to the scientific community and contribute daily to the acceleration of scientific advance. Here, we outline the major updates to ENA's services and infrastructure that have been delivered over the past year.
    MeSH term(s) Computational Biology ; Databases, Nucleic Acid ; High-Throughput Nucleotide Sequencing ; Humans ; Internet ; Molecular Sequence Annotation ; Nucleotides/classification ; Nucleotides/genetics ; Software
    Chemical Substances Nucleotides
    Language English
    Publishing date 2021-10-07
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gkab1051
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: The European Nucleotide Archive in 2020.

    Harrison, Peter W / Ahamed, Alisha / Aslam, Raheela / Alako, Blaise T F / Burgin, Josephine / Buso, Nicola / Courtot, Mélanie / Fan, Jun / Gupta, Dipayan / Haseeb, Muhammad / Holt, Sam / Ibrahim, Talal / Ivanov, Eugene / Jayathilaka, Suran / Balavenkataraman Kadhirvelu, Vishnukumar / Kumar, Manish / Lopez, Rodrigo / Kay, Simon / Leinonen, Rasko /
    Liu, Xin / O'Cathail, Colman / Pakseresht, Amir / Park, Youngmi / Pesant, Stephane / Rahman, Nadim / Rajan, Jeena / Sokolov, Alexey / Vijayaraja, Senthilnathan / Waheed, Zahra / Zyoud, Ahmad / Burdett, Tony / Cochrane, Guy

    Nucleic acids research

    2020  Volume 49, Issue D1, Page(s) D82–D85

    Abstract: The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena), provided by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI), has for almost forty years continued in its mission to freely archive and present the ... ...

    Abstract The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena), provided by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI), has for almost forty years continued in its mission to freely archive and present the world's public sequencing data for the benefit of the entire scientific community and for the acceleration of the global research effort. Here we highlight the major developments to ENA services and content in 2020, focussing in particular on the recently released updated ENA browser, modernisation of our release process and our data coordination collaborations with specific research communities.
    MeSH term(s) Computational Biology/methods ; Databases, Nucleic Acid/statistics & numerical data ; Databases, Nucleic Acid/trends ; Europe ; High-Throughput Nucleotide Sequencing ; Humans ; Internet ; Molecular Sequence Annotation ; Nucleic Acids/chemistry ; Nucleic Acids/genetics ; Nucleotides/chemistry ; Nucleotides/genetics ; Sequence Analysis, DNA ; Sequence Analysis, RNA
    Chemical Substances Nucleic Acids ; Nucleotides
    Language English
    Publishing date 2020-11-11
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gkaa1028
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Mobilisation and analyses of publicly available SARS-CoV-2 data for pandemic responses

    Rahman, Nadim / O’Cathail, Colman / Zyoud, Ahmad / Sokolov, Alexey / Munnink, Bas Oude / Grüning, Björn / Cummins, Carla / Amid, Clara / Nieuwenhuijse, David / Visontai, Dávid / Yuan, David Yu / Gupta, Dipayan / Prasad, Divyae / Gulyás, Gábor Máté / Rinck, Gabriele / McKinnon, Jasmine / Knaggs, Jeff / Skiby, Jeffrey Edward / Stéger, József /
    Szarvas, Judit / Gueye, Khadim / Papp, Krisztián / Hoek, Maarten / Kumar, Manish / Ventouratou, Marianna / Bouquieaux, Marie-Catherine / Koliba, Martin / Mansurova, Milena / Haseeb, Muhammad / Worp, Nathalie / Harrison, Peter W. / Leinonen, Rasko / Thorne, Ross / Selvakumar, Sandeep / Hunt, Sarah / Venkataraman, Sundar / Jayathilaka, Suran / Cezard, Timothée / Maier, Wolfgang / Waheed, Zahra / Iqbal, Zamin / Aarestrup, Frank Møller / Csabai, Istvan / Koopmans, Marion / Burdett, Tony / Cochrane, Guy

    bioRxiv

    Abstract: The COVID-19 pandemic has seen large-scale pathogen genomic sequencing efforts, becoming part of the toolbox for surveillance and epidemic research. This resulted in an unprecedented level of data sharing to open repositories, which has actively ... ...

    Abstract The COVID-19 pandemic has seen large-scale pathogen genomic sequencing efforts, becoming part of the toolbox for surveillance and epidemic research. This resulted in an unprecedented level of data sharing to open repositories, which has actively supported the identification of SARS-CoV-2 structure, molecular interactions, mutations and variants, and facilitated vaccine development and drug reuse studies and design. The European COVID-19 Data Platform was launched to support this data sharing, and has resulted in the deposition of several million SARS-CoV-2 raw reads. In this paper we describe (1) open data sharing, (2) tools for submission, analysis, visualisation and data claiming (e.g. ORCiD), (3) the systematic analysis of these datasets, at scale via the SARS-CoV-2 Data Hubs as well as (4) lessons learned. As a component of the Platform, the SARS-CoV-2 Data Hubs enabled the extension and set up of infrastructure that we intend to use more widely in the future for pathogen surveillance and pandemic preparedness.
    Keywords covid19
    Language English
    Publishing date 2023-04-20
    Publisher Cold Spring Harbor Laboratory
    Document type Article ; Online
    DOI 10.1101/2023.04.19.537514
    Database COVID19

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  8. Article ; Online: GA4GH: International policies and standards for data sharing across genomic research and healthcare.

    Rehm, Heidi L / Page, Angela J H / Smith, Lindsay / Adams, Jeremy B / Alterovitz, Gil / Babb, Lawrence J / Barkley, Maxmillian P / Baudis, Michael / Beauvais, Michael J S / Beck, Tim / Beckmann, Jacques S / Beltran, Sergi / Bernick, David / Bernier, Alexander / Bonfield, James K / Boughtwood, Tiffany F / Bourque, Guillaume / Bowers, Sarion R / Brookes, Anthony J /
    Brudno, Michael / Brush, Matthew H / Bujold, David / Burdett, Tony / Buske, Orion J / Cabili, Moran N / Cameron, Daniel L / Carroll, Robert J / Casas-Silva, Esmeralda / Chakravarty, Debyani / Chaudhari, Bimal P / Chen, Shu Hui / Cherry, J Michael / Chung, Justina / Cline, Melissa / Clissold, Hayley L / Cook-Deegan, Robert M / Courtot, Mélanie / Cunningham, Fiona / Cupak, Miro / Davies, Robert M / Denisko, Danielle / Doerr, Megan J / Dolman, Lena I / Dove, Edward S / Dursi, L Jonathan / Dyke, Stephanie O M / Eddy, James A / Eilbeck, Karen / Ellrott, Kyle P / Fairley, Susan / Fakhro, Khalid A / Firth, Helen V / Fitzsimons, Michael S / Fiume, Marc / Flicek, Paul / Fore, Ian M / Freeberg, Mallory A / Freimuth, Robert R / Fromont, Lauren A / Fuerth, Jonathan / Gaff, Clara L / Gan, Weiniu / Ghanaim, Elena M / Glazer, David / Green, Robert C / Griffith, Malachi / Griffith, Obi L / Grossman, Robert L / Groza, Tudor / Auvil, Jaime M Guidry / Guigó, Roderic / Gupta, Dipayan / Haendel, Melissa A / Hamosh, Ada / Hansen, David P / Hart, Reece K / Hartley, Dean Mitchell / Haussler, David / Hendricks-Sturrup, Rachele M / Ho, Calvin W L / Hobb, Ashley E / Hoffman, Michael M / Hofmann, Oliver M / Holub, Petr / Hsu, Jacob Shujui / Hubaux, Jean-Pierre / Hunt, Sarah E / Husami, Ammar / Jacobsen, Julius O / Jamuar, Saumya S / Janes, Elizabeth L / Jeanson, Francis / Jené, Aina / Johns, Amber L / Joly, Yann / Jones, Steven J M / Kanitz, Alexander / Kato, Kazuto / Keane, Thomas M / Kekesi-Lafrance, Kristina / Kelleher, Jerome / Kerry, Giselle / Khor, Seik-Soon / Knoppers, Bartha M / Konopko, Melissa A / Kosaki, Kenjiro / Kuba, Martin / Lawson, Jonathan / Leinonen, Rasko / Li, Stephanie / Lin, Michael F / Linden, Mikael / Liu, Xianglin / Udara Liyanage, Isuru / Lopez, Javier / Lucassen, Anneke M / Lukowski, Michael / Mann, Alice L / Marshall, John / Mattioni, Michele / Metke-Jimenez, Alejandro / Middleton, Anna / Milne, Richard J / Molnár-Gábor, Fruzsina / Mulder, Nicola / Munoz-Torres, Monica C / Nag, Rishi / Nakagawa, Hidewaki / Nasir, Jamal / Navarro, Arcadi / Nelson, Tristan H / Niewielska, Ania / Nisselle, Amy / Niu, Jeffrey / Nyrönen, Tommi H / O'Connor, Brian D / Oesterle, Sabine / Ogishima, Soichi / Wang, Vivian Ota / Paglione, Laura A D / Palumbo, Emilio / Parkinson, Helen E / Philippakis, Anthony A / Pizarro, Angel D / Prlic, Andreas / Rambla, Jordi / Rendon, Augusto / Rider, Renee A / Robinson, Peter N / Rodarmer, Kurt W / Rodriguez, Laura Lyman / Rubin, Alan F / Rueda, Manuel / Rushton, Gregory A / Ryan, Rosalyn S / Saunders, Gary I / Schuilenburg, Helen / Schwede, Torsten / Scollen, Serena / Senf, Alexander / Sheffield, Nathan C / Skantharajah, Neerjah / Smith, Albert V / Sofia, Heidi J / Spalding, Dylan / Spurdle, Amanda B / Stark, Zornitza / Stein, Lincoln D / Suematsu, Makoto / Tan, Patrick / Tedds, Jonathan A / Thomson, Alastair A / Thorogood, Adrian / Tickle, Timothy L / Tokunaga, Katsushi / Törnroos, Juha / Torrents, David / Upchurch, Sean / Valencia, Alfonso / Guimera, Roman Valls / Vamathevan, Jessica / Varma, Susheel / Vears, Danya F / Viner, Coby / Voisin, Craig / Wagner, Alex H / Wallace, Susan E / Walsh, Brian P / Williams, Marc S / Winkler, Eva C / Wold, Barbara J / Wood, Grant M / Woolley, J Patrick / Yamasaki, Chisato / Yates, Andrew D / Yung, Christina K / Zass, Lyndon J / Zaytseva, Ksenia / Zhang, Junjun / Goodhand, Peter / North, Kathryn / Birney, Ewan

    Cell genomics

    2022  Volume 1, Issue 2

    Abstract: The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic ... ...

    Abstract The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.
    Language English
    Publishing date 2022-02-24
    Publishing country United States
    Document type Journal Article
    ISSN 2666-979X
    ISSN (online) 2666-979X
    DOI 10.1016/j.xgen.2021.100029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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