Article
Calculating variant penetrance from family history of disease and average family size in population-scale data.
Genome medicine - 15 Dec 2022
Spargo Thomas P, Opie-Martin Sarah, Bowles Harry, Lewis Cathryn M, Iacoangeli Alfredo, Al-Chalabi Ammar
Abstract excerpt
BACKGROUND: Genetic penetrance is the probability of a phenotype when harbouring a particular pathogenic variant. Accurate penetrance estimates are important across biomedical fields including genetic counselling, disease research, and gene therapy. However, existing approaches for penetrance estimation require, for instance, large family pedigrees or availability of large databases of people affected and not...
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