Article

Calculating variant penetrance using family history of disease and population data Authorship

2021-03-24

Abstract excerpt

<h4>Purpose</h4> Genetic penetrance is the probability of a phenotype manifesting if one harbours a specific pathogenic variant. For most Mendelian genes, penetrance is incomplete and may be age-dependent. Accurate penetrance estimates are important in many biomedical fields including genetic counselling, disease research, and for gene therapy. The main methods for its estimation are limited in situations where la...

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Literature Corpus work: 8aef556f-80ab-573e-a01e-8c78df636f47
DOI: 10.1101/2021.03.16.21253691

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