Article

Variant-specific Mendelian Risk Prediction Model

2023-03-08

Abstract excerpt

Many pathogenic sequence variants (PSVs) have been associated with increased risk of cancers. Mendelian risk prediction models use Mendelian laws of inheritance to predict the probability of having a PSV based on family history, as well as specified PSV frequency and penetrance (agespecific probability of developing cancer given genotype). Most existing models assume penetrance is the same for any PSVs in a certai...

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Literature Corpus work: 1ceb6aa2-41e8-5a9f-b996-fabb8fd7fff9
DOI: 10.1101/2023.03.06.531363

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