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Article

Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation.

AMIA ... Annual Symposium proceedings. AMIA Symposium - 1 Jan 2019

Watkins Michael, Rynearson Shawn, Henrie Alex, Eilbeck Karen

Abstract excerpt

Current methods used for representing biological sequence variants allow flexibility, which has created redundancy within variant archives and discordance among variant representation tools. While research methodologies have been able to adapt to this ambiguity, strict clinical standards make it difficult to use this data in what would otherwise be useful clinical interventions. We implemented a specification...

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PMID: 32308920
PMCID: PMC7153148

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