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
Date Published2018 11

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.

Alternate JournalHum. Mutat.
PubMed ID30311379
PubMed Central IDPMC6188700
Grant List141210 / / CIHR / Canada
UM1 HG008900 / HG / NHGRI NIH HHS / United States
U41 HG006834 / HG / NHGRI NIH HHS / United States
R24 OD011883 / OD / NIH HHS / United States
U41 HG009649 / HG / NHGRI NIH HHS / United States
/ / Wellcome Trust / United Kingdom
U41 HG009650 / HG / NHGRI NIH HHS / United States
U01 HG007437 / HG / NHGRI NIH HHS / United States
WT201535/Z/16/Z / / Wellcome Trust / United Kingdom