Global Alliance for Genomics and Health explained

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.

GA4GH is founded on the Framework for the Responsible Sharing of Genomic and Health-related Data,[3] which is based on the human right to benefit from scientific advances.[4]

Organization

GA4GH maintained by four Host Institutions (Wellcome Sanger Institute, Broad Institute, Ontario Institute for Cancer Research and the European Bioinformatics Institute).[5] Heidi Rehm is the current GA4GH chair[6] and Peter Goodhand is the Chief Executive Officer.[7] Kathryn North is the current Vice Chair and Ewan Birney is the past chair.[8]

Organizational members of the alliance include:[5]

Funding

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:[5]

Activities

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

GA4GH Work Streams

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

GA4GH Driver Projects

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

Genomic Beacon API

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.

External links

Notes and References

  1. News: Networks of Genome Data Will Transform Medicine. Regalado. Antonio. MIT Technology Review. 2018-10-23. en. 2018-11-09. https://web.archive.org/web/20181109063540/https://www.technologyreview.com/s/535016/internet-of-dna/. dead.
  2. News: The IoT Of Health: Big Data Can Make Us Healthier. Salisbury. Meredith. Forbes. 2018-10-23. en. 2018-10-26. https://web.archive.org/web/20181026183839/https://www.forbes.com/sites/techonomy/2015/03/05/the-iot-of-health-big-data-can-make-us-healthier/#30561ede42f4. live.
  3. News: A RAREfest insight into genetic medicine. Scialom. Mike. Cambridge Independent. 2018-10-23. en. 2018-10-26. https://web.archive.org/web/20181026182955/http://www.cambridgeindependent.co.uk/news/health/a-rarefest-insight-into-genetic-medicine-1-5722970. live.
  4. Web site: Article 27. www.claiminghumanrights.org. de-DE. 2018-10-23. 2018-10-08. https://web.archive.org/web/20181008034819/http://www.claiminghumanrights.org/udhr_article_27.html. live.
  5. Web site: Funders and sponsors . live . https://archive.today/20220209195955/https://www.ga4gh.org/about-us/funders-and-sponsors/ . 2022-02-09 . 2022-11-20 . GA4GH.
  6. Web site: Raths . David . February 7, 2018 . Global Alliance for Genomics and Health Launches Ambitious Roadmap . 2018-10-23 . Healthcare Informatics Magazine . en . 2018-10-26 . https://web.archive.org/web/20181026183511/https://www.healthcare-informatics.com/news-item/interoperability/global-alliance-genomics-and-health-launches-ambitious-roadmap . live .
  7. Web site: Ross . Benjamin . February 26, 2018 . GA4GH Releases 2018 Strategic Roadmap . 2018-10-24 . www.bio-itworld.com . en-us . 2018-10-26 . https://web.archive.org/web/20181026205747/http://www.bio-itworld.com/2018/02/26/ga4gh-releases-2018-strategic-roadmap.aspx . live .
  8. Web site: Bio-IT World . 2019-01-16 . www.bio-itworld.com . en-us . 2024-02-17 . https://web.archive.org/web/20240217200419/https://www.bio-itworld.com/ . live .
  9. News: Global Alliance for Genomics and Health Releases Strategic Plan, Announces Driver Projects. Petrone. Justin. October 17, 2017. GenomeWeb. 2018-10-24. en. 2018-10-26. https://web.archive.org/web/20181026183002/https://www.genomeweb.com/informatics/global-alliance-genomics-and-health-releases-strategic-plan-announces-driver-projects#.W9BenhNKiL4. live.
  10. Web site: EUCANCan. eucancan.com. en-us. 2022-03-24. 2022-03-20. https://web.archive.org/web/20220320141721/https://eucancan.com/. live.
  11. Web site: European Joint Programme on Rare Diseases. www.ejprarediseases.org. en-us. 2022-03-24. 2022-03-28. https://web.archive.org/web/20220328120530/https://www.ejprarediseases.org/. live.
  12. Web site: GA4GH Announces New Strategic Plan, Vision To Create Standards. Proffitt. Allison. October 17, 2017. www.bio-itworld.com. en-us. 2018-10-24. 2018-12-08. https://web.archive.org/web/20181208151413/http://www.bio-itworld.com/2017/10/17/ga4gh-announces-new-strategic-plan-vision-to-create-standards.aspx. live.
  13. Web site: H3Africa. h3africa.org. en-us. 2022-03-24. 2022-03-24. https://web.archive.org/web/20220324131144/https://h3africa.org/. live.
  14. Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond . Human Mutation . 17 March 2022 . 43 . 6 . 791 . Jordi . Rambla . 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 . 24 March 2024 . 18 March 2024 . https://web.archive.org/web/20240318152216/https://onlinelibrary.wiley.com/doi/10.1002/humu.24369 . live .

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