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Article

Modeling the impact of data sharing on variant classification.

Journal of the American Medical Informatics Association : JAMIA - 16 Feb 2023

Casaletto James, Cline Melissa, Shirts Brian

Abstract excerpt

OBJECTIVE: Many genetic variants are classified, but many more are variants of uncertain significance (VUS). Clinical observations of patients and their families may provide sufficient evidence to classify VUS. Understanding how long it takes to accumulate sufficient patient data to classify VUS can inform decisions in data sharing, disease management, and functional assay development. MATERIALS AND METHODS: Our...

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PMID: 36451272
DOI: 10.1093/jamia/ocac232
PMCID: PMC9933054

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