Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques.

ABSTRACT:

Background

Due to their close evolutionary relationship with humans, rhesus macaques are an important pre-clinical model. While genetic diversity driven by short nucleotide variation has long been studied in rhesus macaques, there is comparatively little known about structural variation, with most published studies focused on cross-species comparative analyses. Understanding the degree and implications of intraspecies structural variation is essential to all biomedical research using rhesus macaques as a model.

Results

Here we present long-read sequencing of 59 rhesus macaques, identifying a catalog of 339,334 structural variants (SVs), which we subsequently genotype in a cohort of 2,645 individuals with short read whole genome sequencing data to create the largest public da

SUBMITTER: Ray K 

PROVIDER: S-EPMC12636206 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature