BAM-matcher: a tool for rapid NGS sample matching
Date
2016
Authors
Wang, P.
Parker, W.
Branford, S.
Schreiber, A.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Journal article
Citation
Bioinformatics, 2016; 32(17):2699-2701
Statement of Responsibility
Paul P.S. Wang, Wendy T. Parker, Susan Branford, Andreas W. Schreiber
Conference Name
Abstract
The standard method used by high-throughput genome sequencing facilities for detecting mislabelled samples is to use independently generated high-density SNP data to determine sample identity. However, as it has now become commonplace to have multiple samples sequenced from the same source, such as for analysis of somatic variants using matched tumour and normal samples, we can directly use the genotype information inherent in the sequence data to match samples and thus bypass the need for additional laboratory testing. Here we present BAM-matcher, a tool that can rapidly determine whether two BAM files represent samples from the same biological source by comparing their genotypes. BAM-matcher is designed to be simple to use, provides easily interpretable results, and is suitable for deployment at early stages of data processing pipelines.BAM-matcher is licensed under the Creative Commons by Attribution license, and is available from: https://bitbucket.org/sacgf/bam-matcherSupplementary data are available at Bioinformatics online.paul.wang@sa.gov.au.
School/Discipline
Dissertation Note
Provenance
Description
Access Status
Rights
© The Author 2016. Published by Oxford University Press. All rights reserved.