Dataset Information
BAMixChecker: an automated checkup tool for matched sample pairs in NGS cohort.
Ontology highlight
ABSTRACT: Summary
Mislabeling in the process of next generation sequencing is a frequent problem that can cause an entire genomic analysis to fail, and a regular cohort-level checkup is needed to ensure that it has not occurred. We developed a new, automated tool (BAMixChecker) that accurately detects sample mismatches from a given BAM file cohort with minimal user intervention. BAMixChecker uses a flexible, data-specific set of single-nucleotide polymorphisms and detects orphan (unpaired) and swapped (mispaired) samples based on genotype-concordance score and entropy-based file name analysis. BAMixChecker shows ?100% accuracy in real WES, RNA-Seq and targeted sequencing data cohorts, even for small panels (<50 genes). BAMixChecker provides an HTML-style report that graphically outlines the sample matching status in tables and heatmaps, with which users can quickly inspect any mismatch events.Availability and implementation
BAMixChecker is available at https://github.com/heinc1010/BAMixChecker.Supplementary information
Supplementary data are available at Bioinformatics online.
SUBMITTER: Chun H
PROVIDER: S-EPMC6853765 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Publications
BAMixChecker: an automated checkup tool for matched sample pairs in NGS cohort.
Bioinformatics (Oxford, England) 20191101 22
<h4>Summary</h4>Mislabeling in the process of next generation sequencing is a frequent problem that can cause an entire genomic analysis to fail, and a regular cohort-level checkup is needed to ensure that it has not occurred. We developed a new, automated tool (BAMixChecker) that accurately detects sample mismatches from a given BAM file cohort with minimal user intervention. BAMixChecker uses a flexible, data-specific set of single-nucleotide polymorphisms and detects orphan (unpaired) and swa ...[more]