Short-read aligner performance in germline variant identification.

ABSTRACT:

Motivation

Read alignment is an essential first step in the characterization of DNA sequence variation. The accuracy of variant-calling results depends not only on the quality of read alignment and variant-calling software but also on the interaction between these complex software tools.

Results

In this review, we evaluate short-read aligner performance with the goal of optimizing germline variant-calling accuracy. We examine the performance of three general-purpose short-read aligners-BWA-MEM, Bowtie 2, and Arioc-in conjunction with three germline variant callers: DeepVariant, FreeBayes, and GATK HaplotypeCaller. We discuss the behavior of the read aligners with regard to the data elements on which the variant callers rely, and illustrate how the runtime configurations of t

SUBMITTER: Wilton R 

PROVIDER: S-EPMC10421969 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature