Comprehensive evaluation and guidance of structural variation detection tools in chicken whole genome sequence data.

ABSTRACT:

Background

Structural variations (SVs) are widespread across genome and have a great impact on evolution, disease, and phenotypic diversity. Despite the development of numerous bioinformatic tools, commonly referred to as SV callers, tailored for detecting SVs using whole genome sequence (WGS) data and employing diverse algorithms, their performance necessitates rigorous evaluation with real data and validated SVs. Moreover, a considerable proportion of these tools have been primarily designed and optimized using human genome data. Consequently, their applicability and performance in Avian species, characterized by smaller genomes and distinct genomic architectures, remain inadequately assessed.

Results

We performed a comprehensive assessment of the performance of ten widely

SUBMITTER: Ma C 

PROVIDER: S-EPMC11481438 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature