Driver Projects

Driver Projects


GA4GH Driver Projects are real-world genomic data initiatives that help guide our development efforts and pilot our tools. Stakeholders around the globe advocate, mandate, implement, and use our frameworks and standards in their local contexts.

All of Us Research Program
All of Us Research Program

https://allofus.nih.gov/

United States of America

Champions: Anthony Philippakis, David Glazer

Thematic Area: Rare Disease, Cancer, Complex Traits

All of Us Research Program of the US National Institutes of Health is a historic effort to gather data from one million or more people living in the United States to accelerate research and improve health. By taking into account individual differences in lifestyle, environment, and biology, researchers will uncover paths toward delivering precision medicine.

Australian Genomics
Australian Genomics

https://www.australiangenomics.org.au/

Australia

Champions: Kathryn North, Clara Gaff

Thematic Area: Rare Disease, Cancer, Complex Traits

Australian Genomics brings together more than 70 partner organizations committed to integrating genomic medicine into healthcare across Australia. Our goals are to shorten diagnosis times, enable early intervention and provide access to treatment for people with genetic disorders. Our research is developing the knowledge to translate genomic technology into clinical practice so patients and their families benefit.

Autism Sharing Initiative
Autism Sharing Initiative

https://www.autismsharinginitiative.org/

International

Champions: Dean M. Hartley, Thomas Frazier

Thematic Area: Complex Traits

The Autism Sharing Initiative brings together the world’s most ambitious efforts in autism to create the first federated, global network for sharing genomics and clinical data to accelerate discoveries and the development of precision therapeutics in autism.

BRCA Challenge
BRCA Challenge

http://brcaexchange.org/

International

Champions: Amanda Spurdle, Melissa Cline

Thematic Area: Rare Disease, Cancer

The BRCA Challenge aims to advance our understanding of the genetic basis of breast cancer, ovarian cancer and other diseases by pooling data on BRCA1/2 genetic variants and corresponding clinical data from around the world. The project has developed a publicly available portal, the BRCA Exchange, to make aggregate data accessible to all users and to facilitate expert variant pathogenicity classifications made by the ENIGMA Consortium.

Canadian Distributed Infrastructure for Genomics (CanDIG)
Canadian Distributed Infrastructure for Genomics (CanDIG)

https://www.distributedgenomics.ca/

Canada

Champions: Jonathan Dursi, Mike Brudno, Steven Jones, Guillaume Bourque

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

The Canadian Distributed Infrastructure for Genomics, CanDIG, is a fully distributed platform that allows national-scale, privacy-maintaining analyses of locally-controlled data sets.

Clinical Genome Resource (ClinGen)
Clinical Genome Resource (ClinGen)

https://www.clinicalgenome.org/

United States

Champions: Heidi Rehm

Thematic Area: Rare Disease

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

ELIXIR Beacon
ELIXIR Beacon

https://www.elixir-europe.org/about/implementation-studies/beacons

Europe

Champions: Jordi Rambla, Juha Tornroos, Gary Saunders

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

ELIXIR Beacon enables discovery of research consented sensitive human genetic data stored in databases affiliated with ELIXIR Nodes and in the European Genome-phenome Archive (EGA). Building on the GA4GH Beacon technology, the project is developing common interface to streamline and simplify access to these resources using ELIXIR Authentication and Authorization Infrastructure. ELIXIR Beacon involves partners from eight ELIXIR Nodes: EMBL-EBI, Belgium, Finland, France, Netherlands, Spain, Sweden and Switzerland.

ELIXIR Cloud and AAI for Human Data
ELIXIR Cloud and AAI for Human Data

https://elixir-europe.github.io/cloud

Champions: Jonathan Tedds, Susheel Varma, Shubham Kapoor, Mikael Linden, Martin Kuba

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

The ELIXIR Cloud and Authentication & Authorisation Infrastructure (AAI) for Human Data Communities project aim to leverage a coordinated network of ELIXIR Nodes to deliver a GA4GH standards-compliant federated environment to enable population scale genomic and phenotypic data analysis across international boundaries.

ENA / EVA / EGA
ENA / EVA / EGA

http://www.ebi.ac.uk/ena

Europe

Champions: Thomas Keane and Dylan Spalding

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

The core mission of the European Genome-phenome Archive (EGA)European Variation Archive (EVA), and European Nucleotide Archive (ENA) is to provide the basic infrastructure to enable global public sharing of genetic data. The EGA is a service and database for permanent archiving and sharing of genetic and phenotypic human data resulting from biomedical research projects. It provides the necessary security required to control access in accordance with participant consent, providing access only to authorised researchers and clinicians. The ENA captures and presents information relating to experimental workflows that are based around nucleotide sequencing. The ENA is a partner in the International Nucleotide Sequence Database Collaboration (INSDC) to provide worldwide exchange and replication of all public nucleotide sequences. The EVA is an open-access database of all types of genetic variation data from all species.

The websites for the three archives can be found at:

EpiShare
EpiShare

http://epishare-project.org/

International

Champions: Yann Joly, Mike Cherry, Guillaume Bourque

Thematic Area: Basic Biology

EpiShare is an innovative open science project that, in collaboration with the International Human Epigenome Consortium (IHEC) and the Encyclopedia of DNA Elements (ENCODE), will enhance the accessibility of epigenomic datasets. EpiShare will offer methods and tools to better discover, navigate and analyze available epigenomic datasets that will enrich GA4GH standards. The project will also ensure that the tools developed are compliant with privacy legislation and meet high international ethical standards.
EUCANCan
EUCANCan

https://eucancan.com/

Barcelona, Spain

Champions: David Torrents, Alfonso Valencia

Thematic Area: Cancer

EUCANCan is a federated network of aligned and interoperable infrastructures in Canada, Germany, the Netherlands, France, and Spain for the efficient analysis, management, and sharing of cancer genomic data.

European Joint Programme on Rare Disease
European Joint Programme on Rare Disease

http://www.ejprarediseases.org/

Europe

Champions: Sergi Beltran, Anthony Brookes

Thematic Area: Rare Disease

EJP RD is building a sustainable ecosystem of tools, projects, and programmes across Europe and beyond in order to enable a virtuous circle between rare disease care, research, and medical innovation. It works to support, scale, and connect existing resources and to adapt them for implementation by end users.

GEnome Medical alliance Japan (GEM Japan)
GEnome Medical alliance Japan (GEM Japan)

https://www.amed.go.jp/en/aboutus/collaboration/ga4gh_gem_japan.html

Japan

Champions: Hidewaki Nakagawa, Kenjiro Kosaki, Shuji Tatsumi, Masato Kasuga

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

GEM Japan is a project from the Japan Agency for Medical Research Development (AMED) which aspires to facilitate sharing of genomic and phenotypic information from completed and ongoing Japanese research efforts with the domestic and global communities.

Genomics England
Genomics England

https://www.genomicsengland.co.uk/

United Kingdom

Champions: Augusto Rendon

Thematic Area: Rare Disease, Cancer, Complex Traits

Genomics England is a company owned by the UK Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project is sequencing 100,000 whole genomes from NHS patients and their families. We aim to bring benefit to patients, create an ethical and transparent programme based on consent, enable new scientific discovery and medical insights and kickstart the development of a UK genomics industry. The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers.

Human Cell Atlas
Human Cell Atlas

https://www.humancellatlas.org/

International

Champions: Laura Clarke, Timothy Tickle

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

The Human Cell Atlas is a collaborative community of world-leading scientists working to create comprehensive reference maps of all human cells—the fundamental units of life—as a basis for both understanding human health and diagnosing, monitoring, and treating disease.

Human Heredity and Health in Africa (H3Africa)
Human Heredity and Health in Africa (H3Africa)

https://h3africa.org/

Pan-Africa

Champions: Nicola Mulder, Mogomotsi Matshaba

Thematic Area: Complex Traits, Basic Biology

The Human Heredity and Health in Africa (H3Africa) Initiative aims to facilitate a contemporary research approach to the study of genomics and environmental determinants of common diseases with the goal of improving the health of African populations.

ICGC-ARGO
ICGC-ARGO

https://icgcargo.org/

International

Champions: Christina Yung, Lincoln Stein

Thematic Area: Cancer

The ICGC-ARGO project is an international initiative to sequence the germline and tumor genomes of thousands of participants. ICGC-ARGO will link genomic data to clinical and health information across the cancer spectrum. Researchers, scientists, policymakers, and clinicians will be able to work with patients, healthcare providers, and others through a shared knowledge-base to improve disease prevention, detection, diagnosis, prognosis, and intervention. A series of cloud-based Regional Data Processing Centres will accept raw genomic reads and clinical submissions from participating institutions, running a uniform suite of analytic tools.

Matchmaker Exchange
Matchmaker Exchange

http://www.matchmakerexchange.org/

International

Champions: Ada Hamosh

Thematic Area: Rare Disease

Matchmaker Exchange project was launched in October 2013 to find genetic causes for patients with rare disease. This involves a growing federated platform (Exchange) to facilitating the matching of cases with similar phenotypic and genotypic profiles (matchmaking) through standardized application programming.

Monarch Initiative
Monarch Initiative

https://monarchinitiative.org/

International

Champions: Melissa Haendel, Peter Robinson, Tudor Groza, Monica Munoz-Torres

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

Monarch isn’t just another data aggregator, it is driven to truly integrate biological information using semantics and present it in a novel way. Their niche is the use of computational reasoning to compare phenotypes both within and across species, with the ultimate goal of improving biomedical research.

National Cancer Institute Cancer Research Data Commons (NCI CRDC)
National Cancer Institute Cancer Research Data Commons (NCI CRDC)

https://datascience.cancer.gov/data-commons

United States

Champions: Ian Fore, Robert Grossman

Thematic Area: Cancer

The National Cancer Institute’s (NCI) Cancer Research Data Commons (CRDC) is a cloud-based data science infrastructure that connects data sets with analytical tools to provide a foundation for the cancer research community to make new scientific discoveries and lower the burden of cancer. As a major component of the broader National Cancer Data Ecosystem supporting the Cancer Moonshot (SM) Blue Ribbon Panel’s Recommendation to enhance data sharing, NCI CRDC serves as a coordinated resource for public data sharing of NCI-funded programs.

National Cancer Institute Genomic Data Commons (NCI GDC)
National Cancer Institute Genomic Data Commons (NCI GDC)

https://gdc.cancer.gov/

United States

Champions: Robert Grossman, Michael Fitzimons, Michael Lukowski

Thematic Area: Cancer

The National Cancer Institute (NCI) Genomic Data Commons (GDC) is a data sharing platform that promotes precision medicine in oncology. The GDC contains some of the largest and most comprehensive cancer genomic datasets, including The Cancer Genome Atlas (TCGA) and Therapeutically Applicable Research to Generate Effective Therapies (TARGET). These datasets have been harmonized using a common set of bioinformatics pipelines so the data can be directly compared. As a growing knowledge system for cancer research, the GDC enables researchers to submit data, harmonize the data for import into GDC, as well as query and download high-quality data.

Swiss Personalized Health Network (SPHN)
Swiss Personalized Health Network (SPHN)

https://www.sphn.ch/

Switzerland

Champions: Michael Baudis, Sabine Österle, Katrin Crameri

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

SPHN is developing a nationally coordinated infrastructure which will enable a federated network for sharing genomic and other health related data for research across Switzerland.

Trans-Omics for Precision Medicine (TOPMed)
Trans-Omics for Precision Medicine (TOPMed)

https://www.nhlbiwgs.org/

United States

Champions: Alastair Thomson, Albert Vernon Smith

Thematic Area: Rare Disease, Cancer, Complex Traits, Basic Biology

Trans-Omics for Precision Medicine (TOPMed) is an initiative of the National Heart, Lung, and Blood Institute (NHLBI) at National Institutes of Health (NIH) in the US. The TOPMed program will sequence approximately 150,000 whole genomes and collect other -omics (e.g., transcriptome, methylome, proteome, and metabolome) from participants of well-phenotyped cohort and disease studies. The large -omics data will be integrated with clinical phenotypic data to generate scientific resources that will improve the understanding of heart, lung, blood, and sleep disorders and advance precision medicine

Variant Interpretation for Cancer Consortium (VICC)
Variant Interpretation for Cancer Consortium (VICC)

http://cancervariants.org/

International

Champions: Alex Wagner, Obi Griffith, Malachi Griffith, Debyani Chakravarty

Thematic Area: Cancer

The Variant Interpretation for Cancer Consortium (VICC) brings together the leading institutions that are independently developing solutions for cancer variant interpretation. The VICC will develop and refine standards for describing and tiering variant evidence, promote the adoption of relevant existing ontologies and APIs, and create a federated query service able to interrogate associations between cancer gene alterations and clinical actions based on evidence amassed from all participating institutions worldwide.

GA4GH Connect
GA4GH Connect

Read the full GA4GH Connect 5-year Strategic Plan

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GA4GH Work Streams

Learn more about the GA4GH Work Streams and access their meeting minutes.

Workstreams