Article

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

2022-09-06

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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Literature Corpus work: daa6440c-dea5-5c63-af18-4a7d5d0f364b
DOI: 10.1101/2022.09.06.506817

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