XAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.

ABSTRACT:

Background

The growing volume and heterogeneity of next-generation sequencing (NGS) data complicate the further optimization of identifying DNA variation, especially considering that curated high-confidence variant call sets frequently used to validate these methods are generally developed from the analysis of comparatively small and homogeneous sample sets.

Findings

We have developed xAtlas, a single-sample variant caller for single-nucleotide variants (SNVs) and small insertions and deletions (indels) in NGS data. xAtlas features rapid runtimes, support for CRAM and gVCF file formats, and retraining capabilities. xAtlas reports SNVs with 99.11% recall and 98.43% precision across a reference HG002 sample at 60× whole-genome coverage in less than 2 CPU hours. Applying xAtlas

SUBMITTER: Farek J 

PROVIDER: S-EPMC9841152 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature