Global Alliance for Genomics and Health#GA4GH Driver Projects

GA4GH maintained by four Host Institutions (Wellcome Sanger Institute, Broad Institute, Ontario Institute for Cancer Research and the European Bioinformatics Institute).{{Cite web |title=Funders and sponsors |url=https://www.ga4gh.org/about-us/funders-and-sponsors/ |url-status=live |archive-url=https://archive.today/20220209195955/https://www.ga4gh.org/about-us/funders-and-sponsors/ |archive-date=2022-02-09 |access-date=2022-11-20 |website=GA4GH}} Heidi Rehm is the current GA4GH chair{{Cite web |last=Raths |first=David |date=February 7, 2018 |title=Global Alliance for Genomics and Health Launches Ambitious Roadmap |url=https://www.healthcare-informatics.com/news-item/interoperability/global-alliance-genomics-and-health-launches-ambitious-roadmap |access-date=2018-10-23 |website=Healthcare Informatics Magazine |language=en |archive-date=2018-10-26 |archive-url=https://web.archive.org/web/20181026183511/https://www.healthcare-informatics.com/news-item/interoperability/global-alliance-genomics-and-health-launches-ambitious-roadmap |url-status=live }} and Peter Goodhand is the Chief Executive Officer.{{Cite web |last=Ross |first=Benjamin |date=February 26, 2018 |title=GA4GH Releases 2018 Strategic Roadmap |url=http://www.bio-itworld.com/2018/02/26/ga4gh-releases-2018-strategic-roadmap.aspx |access-date=2018-10-24 |website=www.bio-itworld.com |language=en-us |archive-date=2018-10-26 |archive-url=https://web.archive.org/web/20181026205747/http://www.bio-itworld.com/2018/02/26/ga4gh-releases-2018-strategic-roadmap.aspx |url-status=live }} Kathryn North is the current Vice Chair and Ewan Birney is the past chair.{{Cite web |title=Bio-IT World |url=http://www.bio-itworld.com/ |access-date=2019-01-16 |website=www.bio-itworld.com |language=en-us |archive-date=2024-02-17 |archive-url=https://web.archive.org/web/20240217200419/https://www.bio-itworld.com/ |url-status=live }}

Organizational members of the alliance include:

{{columns-list|colwidth=20em|

• 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 & Discovery
• DNAstack
• Gene42
• GeneYouIn
• GenoLogics Life Sciences Software
• Genome British Columbia
• Genome Canada
• Genome Québec
• 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
• Université Laval
• University of British Columbia
• University of Toronto
• University of Waterloo

}}

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:

• 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

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

1. Regulatory and Ethics (foundational)  
2. Data Security (foundational)  
3. [https://github.com/ga4gh/wiki/wiki Cloud] {{Webarchive|url=https://web.archive.org/web/20201004082022/https://github.com/ga4gh/wiki/wiki |date=2020-10-04 }}  
4. Clinical & Phenotypic Data Capture  
5. Data Use and Researcher Identities  
6. [https://ga4gh-discovery.github.io/ Discovery] {{Webarchive|url=https://web.archive.org/web/20181026182848/https://ga4gh-discovery.github.io/ |date=2018-10-26 }}  
7. Genomic Knowledge Standards  
8. [https://github.com/ga4gh/large-scale-genomics-wiki/wiki Large Scale Genomics] {{Webarchive|url=https://web.archive.org/web/20200921055245/https://github.com/ga4gh/large-scale-genomics-wiki/wiki |date=2020-09-21 }}  

1. All of US Research Program{{Cite news|url=https://www.genomeweb.com/informatics/global-alliance-genomics-and-health-releases-strategic-plan-announces-driver-projects#.W9BenhNKiL4|title=Global Alliance for Genomics and Health Releases Strategic Plan, Announces Driver Projects|last=Petrone|first=Justin|date=October 17, 2017|work=GenomeWeb|access-date=2018-10-24|language=en|archive-date=2018-10-26|archive-url=https://web.archive.org/web/20181026183002/https://www.genomeweb.com/informatics/global-alliance-genomics-and-health-releases-strategic-plan-announces-driver-projects#.W9BenhNKiL4|url-status=live}}
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 {{Cite web|url=https://eucancan.com/|title=EUCANCan|website=eucancan.com|language=en-us|access-date=2022-03-24|archive-date=2022-03-20|archive-url=https://web.archive.org/web/20220320141721/https://eucancan.com/|url-status=live}}
9. European Joint Programme on Rare Diseases {{Cite web|url=https://www.ejprarediseases.org/|title=European Joint Programme on Rare Diseases|website=www.ejprarediseases.org|language=en-us|access-date=2022-03-24|archive-date=2022-03-28|archive-url=https://web.archive.org/web/20220328120530/https://www.ejprarediseases.org/|url-status=live}}
10. Genomics England{{Cite web|url=http://www.bio-itworld.com/2017/10/17/ga4gh-announces-new-strategic-plan-vision-to-create-standards.aspx|title=GA4GH Announces New Strategic Plan, Vision To Create Standards|last=Proffitt|first=Allison|date=October 17, 2017|website=www.bio-itworld.com|language=en-us|access-date=2018-10-24|archive-date=2018-12-08|archive-url=https://web.archive.org/web/20181208151413/http://www.bio-itworld.com/2017/10/17/ga4gh-announces-new-strategic-plan-vision-to-create-standards.aspx|url-status=live}}
11. Human Cell Atlas
12. Human Heredity and Health in Africa (H3Africa) {{Cite web|url=https://h3africa.org//|title=H3Africa|website=h3africa.org|language=en-us|access-date=2022-03-24|archive-date=2022-03-24|archive-url=https://web.archive.org/web/20220324131144/https://h3africa.org/|url-status=live}}
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. [https://cancervariants.org Variant Interpretation for Cancer Consortium (VICC)] {{Webarchive|url=https://web.archive.org/web/20211119115809/https://cancervariants.org/ |date=2021-11-19 }}

The Genomic Beacon API is a standard of GA4GH.{{cite journal

|title=Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond

|journal=Human Mutation

|date=17 March 2022

|volume=43

|issue=6

|url=https://onlinelibrary.wiley.com/doi/10.1002/humu.24369

|page=791

|first=Jordi

|last=Rambla

|author2=Michael Baudis

|author3=Roberto Ariosa

|author4=Tim Beck

|author5=Lauren A. Fromont

|author6=Arcadi Navarro

|author7=Rahel Paloots

|author8=Manuel Rueda

|author9=Gary Saunders

|author10=Babita Singh

|author11=John D. Spalding

|author12=Juha Törnroos

|author13=Claudia Vasallo

|author14=Colin D. Veal

|author15=Anthony J. Brookes

|access-date=24 March 2024

|archive-date=18 March 2024

|archive-url=https://web.archive.org/web/20240318152216/https://onlinelibrary.wiley.com/doi/10.1002/humu.24369

|url-status=live

}} 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.

{{reflist}}

• [http://docs.genomebeacons.org/ Beacon documentation] {{Webarchive|url=https://web.archive.org/web/20240331002933/https://docs.genomebeacons.org/ |date=2024-03-31 }}

Category:Genetics in the United Kingdom

Category:Genomics organizations

Category:South Cambridgeshire District