High-resolution structural variants catalogue in a large-scale whole genome sequenced bovine family cohort data.

ABSTRACT:

Background

Structural variants (SVs) are chromosomal segments that differ between genomes, such as deletions, duplications, insertions, inversions and translocations. The genomics revolution enabled the discovery of sub-microscopic SVs via array and whole-genome sequencing (WGS) data, paving the way to unravel the functional impact of SVs. Recent human expression QTL mapping studies demonstrated that SVs play a disproportionally large role in altering gene expression, underlining the importance of including SVs in genetic analyses. Therefore, this study aimed to generate and explore a high-quality bovine SV catalogue exploiting a unique cattle family cohort data (total 266 samples, forming 127 trios).

Results

We curated 13,731 SVs segregating in the population, consisting of

SUBMITTER: Lee YL 

PROVIDER: S-EPMC10152703 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature