Article

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

2023-10-12

Abstract excerpt

Predicted loss-of-function variants (pLoFs) are often associated with disease. For genes linked with monogenic diseases, we hypothesised that pLoFs present in apparently unaffected individuals may cluster in LoF-tolerant regions. We compared the distribution of pLoFs in ClinVar versus 454,773 individuals in UK Biobank and clustered the variants using Gaussian mixture models. We found that genes in which haploinsuf...

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Literature Corpus work: 704341eb-38da-5c9c-be74-e8a5108bf62e
DOI: 10.1101/2023.10.11.23296535

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