Article

Ancestrally and Temporally Diverse Analysis of Penetrance of Clinical Variants in 72,434 Individuals

2021-03-12

Abstract excerpt

<h4>ABSTRACT</h4> A major goal of genomic medicine is to quantify the disease risk of genetic variants. Here, we report the penetrance of 37,772 clinically relevant variants (including those reported in ClinVar 1 and of loss-of-function consequence) for 197 diseases in an analysis of exome sequence data for 72,434 individuals over five ancestries and six decades of ages from two large-scale population-based bioban...

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Literature Corpus work: 4388c84c-fe72-5ca5-ba1d-a8c715fdc20f
DOI: 10.1101/2021.03.11.21253430

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