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Article

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

Nature communications - 31 Oct 2025

Gudmundsson Sanna, Singer-Berk Moriel, Stenton Sarah L, Goodrich Julia K, Wilson Michael W, Einson Jonah, Watts Nicholas A, Lappalainen Tuuli, Rehm Heidi L, MacArthur Daniel G, O'Donnell-Luria Anne

Abstract excerpt

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 Database (gnomAD),...

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Topics

Humans
Penetrance
Databases, Genetic
Genome, Human
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Genetic Variation

Haploinsufficiency

Source

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Identifiers

PMID: 41173899
DOI: 10.1038/s41467-025-61698-x
PMCID: PMC12579199

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