@article{38393b95ae1c4e54a766f7f26cb03dda,
title = "ClinGen advancing genomic data-sharing standards as a GA4GH driver project",
abstract = "The Clinical Genome Resource (ClinGen){\textquoteright}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.",
keywords = "data sharing, genomic knowledge, phenotype ontology, standards, variant annotation, variant representation",
author = "Lena Dolman and Angela Page and Lawrence Babb and Freimuth, {Robert R.} and Harindra Arachchi and Chris Bizon and Matthew Brush and Marc Fiume and Melissa Haendel and Hansen, {David P.} and Aleksandar Milosavljevic and Patel, {Ronak Y.} and Piotr Pawliczek and Yates, {Andrew D.} and Rehm, {Heidi L.}",
note = "Funding Information: Additional contributions to this work included support by the following grants and organizations: NIH/National Human Genome Research Institute: U41HG006834 (ClinGen-Rehm), U41HG009649 (ClinGen-Bustamante), U41HG009650 (ClinGenBerg), HG008900 (Broad Center for Mendelian Genomics); NIH Office of the Director: 5R24OD011883 (Monarch Initiative); European Molecular Biology Laboratory. Funding Information: Core funders of the Global Alliance for Genomics and Health include the Broad Institute of MIT and Harvard; CanSHARE (G{\'e}nome Qu{\'e}bec, Genome Canada, the Government of Canada, Minist{\`e}re de l'{\'E}conomie, Innovation et Exportation du Qu{\'e}bec, and the Canadian Institutes of Health Research [fund #141210]); Genome Canada; Ontario Institute for Cancer Research (funded by the Ontario Ministry of Economic Development, Job Creation, and Trade); the U.S. National Institutes of Health (Big Data to Knowledge (BD2K), National Cancer Institute, National Heart, Lung, and Blood Institute, and National Human Genome Research Institute); Wellcome (WT201535/Z/16/Z); and Wellcome Sanger Institute. Additional funding is obtained through annual sponsorships from GA4GH Organizational Members. Additional contributions to this work included support by the following grants and organizations: NIH/National Human Genome Research Institute: U41HG006834 (ClinGen-Rehm), U41HG009649 (ClinGen-Bustamante), U41HG009650 (ClinGenBerg), HG008900 (Broad Center for Mendelian Genomics); NIH Office of the Director: 5R24OD011883 (Monarch Initiative); European Molecular Biology Laboratory. The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding organizations. Funding Information: Core funders of the Global Alliance for Genomics and Health include the Broad Institute of MIT and Harvard; CanSHARE (G{\'e}nome Qu{\'e}bec, Genome Canada, the Government of Canada, Minist{\`e}re de l'{\'E}conomie, Innovation et Exportation du Qu{\'e}bec, and the Canadian Institutes of Health Research [fund #141210]); Genome Canada; Ontario Institute for Cancer Research (funded by the Ontario Ministry of Economic Development, Job Creation, and Trade); the U.S. National Institutes of Health (Big Data to Knowledge (BD2K), National Cancer Institute, National Heart, Lung, and Blood Institute, and National Human Genome Research Institute); Wellcome (WT201535/Z/16/Z); and Wellcome Sanger Institute. Additional funding is obtained through annual sponsorships from GA4GH Organizational Members. Publisher Copyright: {\textcopyright} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = nov,
doi = "10.1002/humu.23625",
language = "English (US)",
volume = "39",
pages = "1686--1689",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "11",
}