Multi-tool copy number detection highlights common body size-associated variants in miniature pig breeds from different geographical regions.

ABSTRACT:

Background

Copy number variations (CNVs) represent a common and highly specific type of variation in the genome, potentially influencing genetic diversity and mammalian phenotypic development. Structural variants, such as deletions, duplications, and insertions, have frequently been highlighted as key factors influencing traits in high-production pigs. However, comprehensive CNV analyses in miniature pig breeds are limited despite their value in biomedical research.

Results

This study performed whole-genome sequencing in 36 miniature pigs from nine breeds from America, Asia and Oceania, and Europe. By employing a multi-tool approach (CNVpytor, Delly, GATK gCNV, Smoove), the accuracy of CNV identification was improved. In total, 34 homozygous CNVs overlapped with exonic regio

SUBMITTER: Berghofer J 

PROVIDER: S-EPMC11929999 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature