Investigating the impact of reference assembly choice on genomic analyses in a cattle breed.

ABSTRACT:

Background

Reference-guided read alignment and variant genotyping are prone to reference allele bias, particularly for samples that are greatly divergent from the reference genome. A Hereford-based assembly is the widely accepted bovine reference genome. Haplotype-resolved genomes that exceed the current bovine reference genome in quality and continuity have been assembled for different breeds of cattle. Using whole genome sequencing data of 161 Brown Swiss cattle, we compared the accuracy of read mapping and sequence variant genotyping as well as downstream genomic analyses between the bovine reference genome (ARS-UCD1.2) and a highly continuous Angus-based assembly (UOA_Angus_1).

Results

Read mapping accuracy did not differ notably between the ARS-UCD1.2 and UOA_Angus_1 as

SUBMITTER: Lloret-Villas A 

PROVIDER: S-EPMC8132449 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature