Article

Extracting and calibrating evidence of variant pathogenicity from population biobank data

2024-08-20

Abstract excerpt

<h4>Summary</h4> Genomic medicine requires a robust evidence base of variant phenotypic impacts, which remains incomplete even in extensively studied monogenic disease genes. Here, we evaluated the broad potential of using population cohort data to identify evidence that can be used in variant assessment. Across 41 genes related to 18 clinically actionable monogenic phenotypes, we calculated variant-level odds rat...

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Literature Corpus work: 349b7416-f198-568f-81f8-a0e3e96b7dd8
DOI: 10.1101/2024.08.14.24311911

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