Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain...
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Contents
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...
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Full title
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance
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TN_cdi_doaj_primary_oai_doaj_org_article_38a6936aa39247d38bb363a5ab54185d
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_38a6936aa39247d38bb363a5ab54185d
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ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-024-01333-4
