The effect of mutation subtypes on the allele frequency spectrum and population genetics inference.

ABSTRACT: Population genetics has adapted as technological advances in next-generation sequencing have resulted in an exponential increase of genetic data. A common approach to efficiently analyze genetic variation present in large sequencing data is through the allele frequency spectrum, defined as the distribution of allele frequencies in a sample. While the frequency spectrum serves to summarize patterns of genetic variation, it implicitly assumes mutation types (A→C vs C→T) as interchangeable. However, mutations of different types arise and spread due to spatial and temporal variation in forces such as mutation rate and biased gene conversion that result in heterogeneity in the distribution of allele frequencies across sites. In this work, we explore the impact of this simplification on multiple

SUBMITTER: Liao K 

PROVIDER: S-EPMC10085755 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature