Mapinsights: deep exploration of quality issues and error profiles in high-throughput sequence data.

ABSTRACT: High-throughput sequencing (HTS) has revolutionized science by enabling super-fast detection of genomic variants at base-pair resolution. Consequently, it poses the challenging problem of identification of technical artifacts, i.e. hidden non-random error patterns. Understanding the properties of sequencing artifacts holds the key in separating true variants from false positives. Here, we develop Mapinsights, a toolkit that performs quality control (QC) analysis of sequence alignment files, capable of detecting outliers based on sequencing artifacts of HTS data at a deeper resolution compared with existing methods. Mapinsights performs a cluster analysis based on novel and existing QC features derived from the sequence alignment for outlier detection. We applied Mapinsights on community st

SUBMITTER: Das S 

PROVIDER: S-EPMC10415152 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature