ClinGen advancing genomic data-sharing standards as a GA4GH driver project.
Lena Dolman, Angela Page, Lawrence Babb, Robert R Freimuth, Harindra Arachchi, Chris Bizon, Matthew Brush, Marc Fiume, Melissa Haendel, David P Hansen, Aleksandar Milosavljevic, Ronak Y Patel, Piotr Pawliczek, Andrew D Yates, Heidi L Rehm
Author Information
Lena Dolman: Global Alliance for Genomics and Health Headquarters, Ontario Institute for Cancer Research, Toronto, Ontario, Canada. ORCID
Angela Page: Broad Institute of MIT and Harvard, Cambridge, Massachusetts. ORCID
Lawrence Babb: Sunquest Information Systems, Boston, Massachusetts.
Robert R Freimuth: Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.
Harindra Arachchi: Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Chris Bizon: Renaissance Computing Institute, University of North Carolina, Chapel Hill, North Carolina.
Matthew Brush: Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, Oregon. ORCID
Marc Fiume: Global Alliance for Genomics and Health Headquarters, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Melissa Haendel: Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, Oregon. ORCID
David P Hansen: Australian e-Health Research Centre, CSIRO, UQ Health Sciences Building, Herston, Qld, Australia.
Aleksandar Milosavljevic: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Ronak Y Patel: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. ORCID
Piotr Pawliczek: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Andrew D Yates: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom. ORCID
Heidi L Rehm: Broad Institute of MIT and Harvard, Cambridge, Massachusetts. ORCID
The Clinical Genome Resource (ClinGen)'s work to develop a knowledge base to support the understanding of genes and variants for use in precision medicine and research depends on robust, broadly applicable, and adaptable technical standards for sharing data and information. To forward this goal, ClinGen has joined with the Global Alliance for Genomics and Health (GA4GH) to support the development of open, freely-available technical standards and regulatory frameworks for secure and responsible sharing of genomic and health-related data. In its capacity as one of the 15 inaugural GA4GH "Driver Projects," ClinGen is providing input on the key standards needs of the global genomics community, and has committed to participate on GA4GH Work Streams to support the development of: (1) a standard model for computer-readable variant representation; (2) a data model for linking variant data to annotations; (3) a specification to enable sharing of genomic variant knowledge and associated clinical interpretations; and (4) a set of best practices for use of phenotype and disease ontologies. ClinGen's participation as a GA4GH Driver Project will provide a robust environment to test drive emerging genomic knowledge sharing standards and prove their utility among the community, while accelerating the construction of the ClinGen evidence base.
