Abstract
Summary We propose the simple method HLA-MA for consistency checking in pipelines operating on human HTS data. The method is based on the HLA typing result of the state-of-the-art method Opti-Type. Provided that there is sufficient coverage of the HLA loci, comparing HLA types allows for simple, fast, and robust matching of samples from whole genome, exome, and RNA-seq data. This approach is reliable for sample re-identification even for samples with high mutational loads, e.g., caused by microsatellite instability or POLE1 defects.
Availability and Implementation The software is implemented In Python 3 and freely available under the MIT license at https://github.com/bihealth/hlama and via Bioconda.
Contact dieter.beule{at}bihealth.de
Copyright
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
Posted August 24, 2016.
