Study design and the sampling of deleterious rare variants in biobank-scale datasets.

ABSTRACT: One key component of study design in population genetics is the "geographic breadth" of a sample (i.e., how broad a region across which individuals are sampled). How the geographic breadth of a sample impacts observations of rare, deleterious variants is unclear, even though such variants are of particular interest for biomedical and evolutionary applications. Here, in order to gain insight into the effects of sample design on ascertained genetic variants, we formulate a stochastic model of dispersal, genetic drift, selection, mutation, and geographically concentrated sampling. We use this model to understand the effects of the geographic breadth of sampling effort on the discovery of negatively selected variants. We find that samples which are more geographically broad will discover a gre

SUBMITTER: Steiner MC 

PROVIDER: S-EPMC11642817 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature