ClinGen advancing genomic data-sharing standards as a GA4GH driver project.

TitleClinGen advancing genomic data-sharing standards as a GA4GH driver project.
Publication TypeJournal Article
Year of Publication2018
AuthorsDolman, L, Page, A, Babb, L, Freimuth, RR, Arachchi, H, Bizon, C, Brush, M, Fiume, M, Haendel, M, Hansen, DP, Milosavljevic, A, Patel, RY, Pawliczek, P, Yates, AD, Rehm, HL
JournalHum Mutat
Volume39
Issue11
Pagination1686-1689
Date Published2018 Nov
ISSN1098-1004
Abstract

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.

DOI10.1002/humu.23625
Alternate JournalHum. Mutat.
PubMed ID30311379
PubMed Central IDPMC6188700
Grant List141210 / / Canadian Institutes of Health Research / Canada
UM1 HG008900 / HG / NHGRI NIH HHS / United States
/ / Job Creation /
/ / Wellcome Sanger Institute /
/ / Broad Institute /
U41HG009649 / / National Human Genome Research Institute /
5R24OD011883 / / NIH Office of the Director /
/ / National Heart, Lung, and Blood Institute /
/ / Government of Canada /
/ / Genome Canada /
/ / National Cancer Institute /
/ / U.S. National Institutes of Health /
U41 HG006834 / HG / NHGRI NIH HHS / United States
/ / Génome Québec /
/ / Ministère de l'Économie /
R24 OD011883 / OD / NIH HHS / United States
UM1HG008900 / / National Human Genome Research Institute /
/ / Ontario Institute for Cancer Research /
/ / CanSHARE /
U41 HG009649 / HG / NHGRI NIH HHS / United States
/ / Innovation et Exportation du Québec /
/ / Wellcome Trust / United Kingdom
U41 HG009650 / HG / NHGRI NIH HHS / United States
U01 HG007437 / HG / NHGRI NIH HHS / United States
U41HG006834 / / National Human Genome Research Institute /
/ / Ontario Ministry of Economic Development /
WT201535/Z/16/Z / / Wellcome /
/ / European Molecular Biology Laboratory /
U41HG009650 / / National Human Genome Research Institute /
/ / Trade /