Fast and accurate variant identification tool for sequencing-based studies.

ABSTRACT:

Background

Accurate identification of genetic variants, such as point mutations and insertions/deletions (indels), is crucial for various genetic studies into epidemic tracking, population genetics, and disease diagnosis. Genetic studies into microbiomes often require processing numerous sequencing datasets, necessitating variant identifiers with high speed, accuracy, and robustness.

Results

We present QuickVariants, a bioinformatics tool that effectively summarizes variant information from read alignments and identifies variants. When tested on diverse bacterial sequencing data, QuickVariants demonstrates a ninefold higher median speed than bcftools, a widely used variant identifier, with higher accuracy in identifying both point mutations and indels. This accuracy extends

SUBMITTER: Gaston JM 

PROVIDER: S-EPMC11034086 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature