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Article

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.

Genome medicine - 26 Apr 2024

Beaumont Robin N, Hawkes Gareth, Gunning Adam C, Wright Caroline F

Abstract excerpt

BACKGROUND: Genetic variants that severely alter protein products (e.g. nonsense, frameshift) are often associated with disease. For some genes, these predicted loss-of-function variants (pLoFs) are observed throughout the gene, whilst in others, they occur only at specific locations. We hypothesised that, for genes linked with monogenic diseases that display incomplete penetrance, pLoF variants present in...

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Identifiers

PMID: 38671509
DOI: 10.1186/s13073-024-01333-4
PMCID: PMC11046769

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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