Calculating variant penetrance from family history of disease and average family size in population-scale data

ConclusionsThe present approach broadens the spectrum of traits for which reliable penetrance estimates can be obtained. It has substantial utility for facilitating the characterisation of disease risks associated with rare variants with an autosomal dominant inheritance pattern. The yielded estimates avoid any kinship-specific effects and can circumvent ascertainment biases common when sampling rare variants among control populations.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research