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

ABSTRACT:

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 affected by a disease.

Methods

We present a method for penetrance estimation in autosomal dominant phenotypes. It examines the distribution of a variant among people affected (cases) and unaffected (controls) by a phenotype within population-scale data and can be operated using cases only by considering family disease history. It is validated through simulation studies a

SUBMITTER: Spargo TP 

PROVIDER: S-EPMC9753373 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature