Article

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

2024-06-13

Abstract excerpt

<h4>ABSTRACT</h4> Incomplete penetrance, or absence of disease phenotype in an individual with a disease-associated variant, is a major challenge in variant interpretation. Studying individuals with apparent incomplete penetrance can shed light on underlying drivers of altered phenotype penetrance. Here, we investigate clinically relevant variants from ClinVar in 807,162 individuals from the Genome Aggregation Da...

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Literature Corpus work: 0f640629-309e-59f2-91fd-4023ae85c78e
DOI: 10.1101/2024.06.12.593113

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