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Development and application of a computable genotype model in the GA4GH Variation Representation Specification.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2023

Goar Wesley, Babb Lawrence, Chamala Srikar, Cline Melissa, Freimuth Robert R, Hart Reece K, Kuzma Kori, Lee Jennifer, Nelson Tristan, Prlić Andreas, Riehle Kevin, Smith Anastasia, Stahl Kathryn, Yates Andrew D, Rehm Heidi L, Wagner Alex H

Abstract excerpt

As the diversity of genomic variation data increases with our growing understanding of the role of variation in health and disease, it is critical to develop standards for precise inter-system exchange of these data for research and clinical applications. The Global Alliance for Genomics and Health (GA4GH) Variation Representation Specification (VRS) meets this need through a technical terminology and information...

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PMID: 36540993
PMCID: PMC9782714

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