Driver Projects

Driver Projects


GA4GH Driver Projects are real-world genomic datainitiatives 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.

BRCA Challenge
BRCA Challenge

http://brcaexchange.org/

International

Champions: Amanda Spurdle, Gunnar Rätsch, Sean Tavtigian, Benedict Paten, David Goldgar, 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://candig.github.io/

Canada

Champions: 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: Serena Scollen, Ilkka Lappalainen, Michael Baudis

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.

ENA / EVA / EGA
ENA / EVA / EGA

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

Europe

Champions: Thomas Keane, Jordi Rambla, Dylan Spalding, Cristina Yenyxe Gonzalez

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:

Genomics England
Genomics England

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

United Kingdom

Champions: Augusto Rendon, Peter Counter

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.

ICGC-ARGO
ICGC-ARGO

https://icgcargo.org/

International

Champions: Vincent Ferretti, 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: Kym Boycott, Ada Hamosh, Heidi Rehm

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

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 Data Commons Framework (NCI DCF)
National Cancer Institute Data Commons Framework (NCI DCF)

https://cbiit.cancer.gov/ncip/cancer-data-commons#framework

United States

Champions: Christina Yung, Robert Grossman

Thematic Area: Cancer

As part of the NCI Cancer Research Data Commons, the NCI Data Commons Framework (DCF) will provide components required to stand up and maintain a Data Commons “node”. The DCF components are: secure user authentication and authorization; metadata validation tools; approach for creation of domain-specific data models; API and container environment for tools and pipelines; workspaces for storing data, tools, and results, and for collaboration. The DCF will provide the basis for usable and interoperable infrastuctures.

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

https://gdc.cancer.gov/

United States

Champions: Christina Yung, Robert Grossman

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.

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

https://www.nhlbiwgs.org/

United States

Champions: Goncalo Abecasis

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: Obi Griffith, David Tamborero, Malachi Griffith

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.

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