Global Alliance for Genomics and Health

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  and is maintained by three Host Institutions (Wellcome Sanger Institute, Broad Institute, and Ontario Institute for Cancer Research).[3] Ewan Birney is the current GA4GH chair[4] and Peter Goodhand is the Chief Executive Officer.[5] Heidi Rehm and Kathryn North are the current Vice Chairs.[6]

GA4GH is founded on the Framework for the Responsible Sharing of Genomic and Health-related Data,[7] which is based on the human right to benefit from scientific advances.[8]

All GA4GH standards are developed by six technical and two foundational "Work Streams" in collaboration with real-world genomic data initiatives called "Driver Projects."[5]

GA4GH Work Streams
  1. Regulatory and Ethics (foundational)[4]  
  2. Data Security (foundational)[4]  
  3. Cloud[4]  
  4. Clinical & Phenotypic Data Capture [4]  
  5. Data Use and Researcher Identities[4]  
  6. Discovery[4]  
  7. Genomic Knowledge Standards[4]  
  8. Large Scale Genomics[4]  

GA4GH Driver Projects
  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. Genomics England[9]
  9. Human Cell Atlas[9]
  10. International Cancer Genome Consortium - ARGO[9]
  11. Matchmaker Exchange[9]
  12. The Monarch Initiative[9]
  13. National Cancer Institute Data Commons Framework (NCI DCF) and Genomic Data Commons (NCI GDC)[9]
  14. Trans-Omics for Precision Medicine (TOPMed)[9]
  15. Variant Interpretation for Cancer Consortium[9]
gollark: The greater problem is that it's unmaintained and anyone who might actually know the code well enough to work on it is now working on v2 and under NDAs for some bizarre reason.
gollark: Er, basically, there's some configuration set which probably isn't right for all environments, but that's not a complex fix either.
gollark: Oh, and it has some hardcoded paths.
gollark: Seems like it wouldn't be too hard to run; the only finicky part is that it needs a MySQL database and has a lot of random services, but the docker compose stuff handles that anyway.
gollark: The documentation for this is actually pretty good, and it's all dockerized.

References
  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. Petrone, Justin (October 17, 2017). "Global Alliance for Genomics and Health Releases Strategic Plan, Announces Driver Projects". GenomeWeb. Retrieved 2018-10-24.
  4. Raths, David (February 7, 2018). "Global Alliance for Genomics and Health Launches Ambitious Roadmap". Healthcare Informatics Magazine. Retrieved 2018-10-23.
  5. Ross, Benjamin (February 26, 2018). "GA4GH Releases 2018 Strategic Roadmap". www.bio-itworld.com. Retrieved 2018-10-24.
  6. "Bio-IT World". www.bio-itworld.com. Retrieved 2019-01-16.
  7. Scialom, Mike. "A RAREfest insight into genetic medicine". Cambridge Independent. Retrieved 2018-10-23.
  8. "Article 27". www.claiminghumanrights.org (in German). Retrieved 2018-10-23.
  9. Proffitt, Allison (October 17, 2017). "GA4GH Announces New Strategic Plan, Vision To Create Standards". www.bio-itworld.com. Retrieved 2018-10-24.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.