The Global Alliance for Genomics and Health (GA4GH) is an international consortium that is developing standards for responsibly collecting, storing, analyzing, and sharing

genomic Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dim ...

data in order to enable an "internet of genomics". GA4GH was founded in 2013. GA4GH is founded on the '' Framework for the Responsible Sharing of Genomic and Health-related Data,'' which is based on the human right to benefit from scientific advances.

Organization

GA4GH maintained by four Host Institutions (

Wellcome Sanger Institute The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust. It is located on the Wellcome Ge ...

Broad Institute The Eli and Edythe L. Broad Institute of MIT and Harvard (IPA: , pronunciation respelling: ), often referred to as the Broad Institute, is a biomedical and genomic research center located in Cambridge, Massachusetts, Cambridge, Massachusetts, U ...

Ontario Institute for Cancer Research The Ontario Institute for Cancer Research (OICR) is a not-for-profit organization based in Toronto, Ontario, Canada that focuses on the prevention, early detection, diagnosis and treatment of cancer. OICR intends to make Ontario more effective i ...

and the

European Bioinformatics Institute The European Bioinformatics Institute (EMBL-EBI) is an Intergovernmental Organization (IGO) which, as part of the European Molecular Biology Laboratory (EMBL) family, focuses on research and services in bioinformatics. It is located on the Well ...

Ewan Birney John Frederick William Birney (known as Ewan Birney) (born 6 December 1972) is joint director of EMBL's European Bioinformatics Institute (EMBL-EBI), in Hinxton, Cambridgeshire and deputy director general of the European Molecular Biology Labora ...

is the current GA4GH chair and Peter Goodhand is the Chief Executive Officer. Heidi Rehm and

Kathryn North Kathryn Nance North is a paediatric physician, neurologist, and clinical geneticist. In 2013, she was appointed Director of the Murdoch Childrens Research Institute and was named the David Danks Professor of Child Health Research at the Universi ...

are the current Vice Chairs. Organizational members of the alliance include:

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: *

Canadian Institutes of Health Research The Canadian Institutes of Health Research (CIHR; french: Instituts de recherche en santé du Canada; IRSC) is a federal agency responsible for funding health and medical research in Canada. Comprising 13 institutes, it is the successor to the M ...

Genome Canada Genome Canada is a non-profit organization that aims to use genomics-based technologies to improve the lives of Canadians. It is funded by the Government of Canada. Genome Canada provides large-scale investments that develop new technologies, conne ...

National Institute for Health Research The National Institute for Health and Care Research (NIHR) is the British government’s major funder of clinical, public health, social care and translational research. With a budget of over £1.2 billion in 2020–21, its mission is to "impr ...

National Institutes of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...

National Cancer Institute The National Cancer Institute (NCI) coordinates the United States National Cancer Program and is part of the National Institutes of Health (NIH), which is one of eleven agencies that are part of the U.S. Department of Health and Human Services. ...

National Heart, Lung and Blood Institute The National Heart, Lung, and Blood Institute (NHLBI) is the third largest Institute of the National Institutes of Health, located in Bethesda, Maryland, United States. It is tasked with allocating about $3.6 billion in FY 2020 in tax revenue to ...

National Human Genome Research Institute The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland. NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transi ...

** Office of Data Science Strategy ** Office of the Director of the National Institutes of Health /

All of Us ''All of Us'' is an American sitcom television series that premiered on the UPN network in the United States on September 16, 2003, where it aired for its first three seasons. On October 1, 2006, the show moved to The CW, a new network formed by ...

research project *

UK Research and Innovation UK Research and Innovation (UKRI) is a non-departmental public body of the Government of the United Kingdom that directs research and innovation funding, funded through the science budget of the Department for Business, Energy and Industrial Str ...

** Medical Research Council *

Wellcome Trust The Wellcome Trust is a charitable foundation focused on health research based in London, in the United Kingdom. It was established in 1936 with legacies from the pharmaceutical magnate Henry Wellcome (founder of one of the predecessors of Glaxo ...

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

# Regulatory and Ethics (foundational) # Data Security (foundational)
Cloud
ref name="Raths 2018" /> # Clinical & Phenotypic Data Capture # Data Use and Researcher Identities
Discovery
ref name="Raths 2018" /> # Genomic Knowledge Standards
Large Scale Genomics
ref name="Raths 2018" />

GA4GH Driver Projects

# ''All of US'' Research Program # Australian Genomics # BRCA Challenge # Canadian Distributed Infrastructure for Genomics (CanDig) # Clinical Genome Resource (ClinGen) #

ELIXIR ELIXIR (the European life-sciences Infrastructure for biological Information) is an initiative that will allow life science laboratories across Europe to share and store their research data as part of an organised network. Its goal is to bring t ...

Beacon # The

European Nucleotide Archive The European Nucleotide Archive (ENA) is a repository providing free and unrestricted access to annotated DNA and RNA sequences. It also stores complementary information such as experimental procedures, details of sequence assembly and other me ...

, European Variation Archive, and

European Genome-phenome Archive European Genome-phenome Archive (EGA) is a repository for human biomolecular and phenotypic data in the United Kingdom and Spain. It involves the secure storage of all potentially identifiable genetic data, phenotypic and clinical data genera ...

EMBL-EBI The European Bioinformatics Institute (EMBL-EBI) is an Intergovernmental Organization (IGO) which, as part of the European Molecular Biology Laboratory (EMBL) family, focuses on research and services in bioinformatics. It is located on the Well ...

# EUCANCan # European Joint Programme on Rare Diseases #

Genomics England Genomics England is a British company set up and owned by the United Kingdom Department of Health and Social Care to run the 100,000 Genomes Project. The project aimed in 2014 to sequence 100,000 genomes from NHS patients with a rare disease an ...

# Human Cell Atlas # Human Heredity and Health in Africa (H3Africa) #

International Cancer Genome Consortium The International Cancer Genome Consortium (ICGC) is a voluntary scientific organization that provides a forum for collaboration among the world's leading cancer and genomic researchers. The ICGC was launched in 2008 to coordinate large-scale can ...

- ARGO # Matchmaker Exchange # The Monarch Initiative #

Data Commons Framework (NCI DCF) and Genomic Data Commons (NCI GDC) # Trans-Omics for Precision Medicine (TOPMed)
Variant Interpretation for Cancer Consortium (VICC)
ref name="Proffitt 2018" />

References

{{reflist Genetics in the United Kingdom Genomics organizations South Cambridgeshire District