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Global Alliance for Genomics and Health

January 01, 1970

The Global Alliance for Genomics and Health (GA4GH) is an international consortium that is developing standards for responsibly collecting, storing, analyzing, and sharing genomic data in order to enable an "internet of genomics".[1][2] GA4GH was founded in 2013.[3]

GA4GH is founded on the Framework for the Responsible Sharing of Genomic and Health-related Data,[4] which is based on the human right to benefit from scientific advances.[5]

Organization edit

GA4GH maintained by four Host Institutions (Wellcome Sanger Institute, Broad Institute, Ontario Institute for Cancer Research and the European Bioinformatics Institute).[6] Heidi Rehm is the current GA4GH chair[7] and Peter Goodhand is the Chief Executive Officer.[8] Kathryn North is the current Vice Chair and Ewan Birney is the past chair.[9]

Organizational members of the alliance include:[6]

Funding edit

GA4GH is supported by a "Funder's Forum" composed of organizations whose funding commitments exceed USD $200,000 annually, for at least three years. Forum members include:[6]

Activities edit

All GA4GH standards are developed by six technical and two foundational "Work Streams" in collaboration with real-world genomic data initiatives called "Driver Projects."[8]

GA4GH Work Streams edit

  1. Regulatory and Ethics (foundational)[7]  
  2. Data Security (foundational)[7]  
  3. Cloud[7]  
  4. Clinical & Phenotypic Data Capture [7]  
  5. Data Use and Researcher Identities[7]  
  6. Discovery[7]  
  7. Genomic Knowledge Standards[7]  
  8. Large Scale Genomics[7]  

GA4GH Driver Projects edit

  1. All of US Research Program[3]
  2. Australian Genomics[3]
  3. BRCA Challenge[3]
  4. Canadian Distributed Infrastructure for Genomics (CanDig)[3]
  5. Clinical Genome Resource (ClinGen)[3]
  6. ELIXIR Beacon[3]
  7. The European Nucleotide Archive, European Variation Archive, and European Genome-phenome Archive at EMBL-EBI[3]
  8. EUCANCan [10]
  9. European Joint Programme on Rare Diseases [11]
  10. Genomics England[12]
  11. Human Cell Atlas[12]
  12. Human Heredity and Health in Africa (H3Africa) [13]
  13. International Cancer Genome Consortium - ARGO[12]
  14. Matchmaker Exchange[12]
  15. The Monarch Initiative[12]
  16. National Cancer Institute Data Commons Framework (NCI DCF) and Genomic Data Commons (NCI GDC)[12]
  17. Trans-Omics for Precision Medicine (TOPMed)[12]
  18. Variant Interpretation for Cancer Consortium (VICC)[12]

Genomic Beacon API edit

The Genomic Beacon API is a standard of GA4GH.[14] The "Beacon" protocol was originally proposed as a simple standard for the discovery of genomic sequence variants using federated queries against a potentially large number of genomic databases with implicit security provided through the use of limited query parameters and restriction to Boolean responses. In the version 2 of the protocol the API supports "phenoclinical" queries (e.g. combining parameters for genomic variant discovery with diagnostic or technical parameters) as well as responses containing versions of the matched records.

References edit

  1. ^ Regalado, Antonio. "Networks of Genome Data Will Transform Medicine". MIT Technology Review. Retrieved 2018-10-23.
  2. ^ Salisbury, Meredith. "The IoT Of Health: Big Data Can Make Us Healthier". Forbes. Retrieved 2018-10-23.
  3. ^ a b c d e f g h Petrone, Justin (October 17, 2017). "Global Alliance for Genomics and Health Releases Strategic Plan, Announces Driver Projects". GenomeWeb. Retrieved 2018-10-24.
  4. ^ Scialom, Mike. "A RAREfest insight into genetic medicine". Cambridge Independent. Retrieved 2018-10-23.
  5. ^ "Article 27". www.claiminghumanrights.org (in German). Retrieved 2018-10-23.
  6. ^ a b c "Funders and sponsors". GA4GH. Archived from the original on 2022-02-09. Retrieved 2022-11-20.
  7. ^ a b c d e f g h i Raths, David (February 7, 2018). "Global Alliance for Genomics and Health Launches Ambitious Roadmap". Healthcare Informatics Magazine. Retrieved 2018-10-23.
  8. ^ a b Ross, Benjamin (February 26, 2018). "GA4GH Releases 2018 Strategic Roadmap". www.bio-itworld.com. Retrieved 2018-10-24.
  9. ^ "Bio-IT World". www.bio-itworld.com. Retrieved 2019-01-16.
  10. ^ "EUCANCan". eucancan.com. Retrieved 2022-03-24.
  11. ^ "European Joint Programme on Rare Diseases". www.ejprarediseases.org. Retrieved 2022-03-24.
  12. ^ a b c d e f g h Proffitt, Allison (October 17, 2017). "GA4GH Announces New Strategic Plan, Vision To Create Standards". www.bio-itworld.com. Retrieved 2018-10-24.
  13. ^ "H3Africa". h3africa.org. Retrieved 2022-03-24.
  14. ^ Rambla, Jordi; Michael Baudis; Roberto Ariosa; Tim Beck; Lauren A. Fromont; Arcadi Navarro; Rahel Paloots; Manuel Rueda; Gary Saunders; Babita Singh; John D. Spalding; Juha Törnroos; Claudia Vasallo; Colin D. Veal; Anthony J. Brookes (17 March 2022). "Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond". Human Mutation. 43 (6): 791.

External links edit

  • Beacon documentation

January 01, 1970
global, alliance, genomics, health, ga4gh, international, consortium, that, developing, standards, responsibly, collecting, storing, analyzing, sharing, genomic, data, order, enable, internet, genomics, ga4gh, founded, 2013, ga4gh, founded, framework, responsi. The Global Alliance for Genomics and Health GA4GH is an international consortium that is developing standards for responsibly collecting storing analyzing and sharing genomic data in order to enable an internet of genomics 1 2 GA4GH was founded in 2013 3 GA4GH is founded on the Framework for the Responsible Sharing of Genomic and Health related Data 4 which is based on the human right to benefit from scientific advances 5 Contents 1 Organization 1 1 Funding 1 2 Activities 1 2 1 GA4GH Work Streams 1 2 2 GA4GH Driver Projects 2 Genomic Beacon API 3 References 4 External linksOrganization editGA4GH maintained by four Host Institutions Wellcome Sanger Institute Broad Institute Ontario Institute for Cancer Research and the European Bioinformatics Institute 6 Heidi Rehm is the current GA4GH chair 7 and Peter Goodhand is the Chief Executive Officer 8 Kathryn North is the current Vice Chair and Ewan Birney is the past chair 9 Organizational members of the alliance include 6 Alberta Precision Laboratories BioBox Analytics British Columbia Institute of Technology BCIT Canada Health Infoway Canadian Cancer Society Canadian Institutes of Health Research CIHR Canadian Organization for Rare Disorders CORD Canadian Distributed Infrastructure for Genomics CanDIG Centre of Genomics and Policy CHU Sainte Justine Research Center Coral Health Research amp Discovery DNAstack Gene42 GeneYouIn GenoLogics Life Sciences Software Genome British Columbia Genome Canada Genome Quebec GenomeArc Huntington Society of Canada Indoc Research International Cancer Genome Consortium International Human Epigenome Consortium International Society for Biological and Environmental Repositories McGill University MitoCanada Foundation Montreal Neurological Institute and Hospital The Neuro Mount Sinai Hospital Newtopia Ontario Brain Institute Ontario Institute for Cancer Research Ontario Personalized Medicine Network Pentavere Research Group PHEMI Systems Public Population Project in Genomics and Society P3G Roche SickKids Lunenfeld Tanenbaum Research Institute Sightline Innovation Simon Fraser University SolverGen Streamline Genomics Sunnybrook Research Institute Universite Laval University of British Columbia University of Toronto University of Waterloo Funding edit GA4GH is supported by a Funder s Forum composed of organizations whose funding commitments exceed USD 200 000 annually for at least three years Forum members include 6 Canadian Institutes of Health Research Genome Canada National Institute for Health Research National Institutes of Health National Cancer Institute National Heart Lung and Blood Institute National Human Genome Research Institute Office of Data Science Strategy Office of the Director of the National Institutes of Health All of Us research project UK Research and Innovation Medical Research Council Wellcome Trust Activities edit All GA4GH standards are developed by six technical and two foundational Work Streams in collaboration with real world genomic data initiatives called Driver Projects 8 GA4GH Work Streams edit Regulatory and Ethics foundational 7 Data Security foundational 7 Cloud 7 Clinical amp Phenotypic Data Capture 7 Data Use and Researcher Identities 7 Discovery 7 Genomic Knowledge Standards 7 Large Scale Genomics 7 GA4GH Driver Projects edit All of US Research Program 3 Australian Genomics 3 BRCA Challenge 3 Canadian Distributed Infrastructure for Genomics CanDig 3 Clinical Genome Resource ClinGen 3 ELIXIR Beacon 3 The European Nucleotide Archive European Variation Archive and European Genome phenome Archive at EMBL EBI 3 EUCANCan 10 European Joint Programme on Rare Diseases 11 Genomics England 12 Human Cell Atlas 12 Human Heredity and Health in Africa H3Africa 13 International Cancer Genome Consortium ARGO 12 Matchmaker Exchange 12 The Monarch Initiative 12 National Cancer Institute Data Commons Framework NCI DCF and Genomic Data Commons NCI GDC 12 Trans Omics for Precision Medicine TOPMed 12 Variant Interpretation for Cancer Consortium VICC 12 Genomic Beacon API editThe Genomic Beacon API is a standard of GA4GH 14 The Beacon protocol was originally proposed as a simple standard for the discovery of genomic sequence variants using federated queries against a potentially large number of genomic databases with implicit security provided through the use of limited query parameters and restriction to Boolean responses In the version 2 of the protocol the API supports phenoclinical queries e g combining parameters for genomic variant discovery with diagnostic or technical parameters as well as responses containing versions of the matched records References edit Regalado Antonio Networks of Genome Data Will Transform Medicine MIT Technology Review Retrieved 2018 10 23 Salisbury Meredith The IoT Of Health Big Data Can Make Us Healthier Forbes Retrieved 2018 10 23 a b c d e f g h Petrone Justin October 17 2017 Global Alliance for Genomics and Health Releases Strategic Plan Announces Driver Projects GenomeWeb Retrieved 2018 10 24 Scialom Mike A RAREfest insight into genetic medicine Cambridge Independent Retrieved 2018 10 23 Article 27 www claiminghumanrights org in German Retrieved 2018 10 23 a b c Funders and sponsors GA4GH Archived from the original on 2022 02 09 Retrieved 2022 11 20 a b c d e f g h i Raths David February 7 2018 Global Alliance for Genomics and Health Launches Ambitious Roadmap Healthcare Informatics Magazine Retrieved 2018 10 23 a b Ross Benjamin February 26 2018 GA4GH Releases 2018 Strategic Roadmap www bio itworld com Retrieved 2018 10 24 Bio IT World www bio itworld com Retrieved 2019 01 16 EUCANCan eucancan com Retrieved 2022 03 24 European Joint Programme on Rare Diseases www ejprarediseases org Retrieved 2022 03 24 a b c d e f g h Proffitt Allison October 17 2017 GA4GH Announces New Strategic Plan Vision To Create Standards www bio itworld com Retrieved 2018 10 24 H3Africa h3africa org Retrieved 2022 03 24 Rambla Jordi Michael Baudis Roberto Ariosa Tim Beck Lauren A Fromont Arcadi Navarro Rahel Paloots Manuel Rueda Gary Saunders Babita Singh John D Spalding Juha Tornroos Claudia Vasallo Colin D Veal Anthony J Brookes 17 March 2022 Beacon v2 and Beacon networks A lingua franca for federated data discovery in biomedical genomics and beyond Human Mutation 43 6 791 External links editBeacon documentation Retrieved from https en wikipedia org w index php title Global Alliance for Genomics and Health amp oldid 1215316124, wikipedia, wiki, book, books, library,

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