RT Journal Article
SR Electronic
T1 HLA-MA: Simple yet powerful matching of samples using HLA typing results
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 066548
DO 10.1101/066548
A1 Clemens Messerschmidt
A1 Manuel Holtgrewe
A1 Dieter Beule
YR 2016
UL http://biorxiv.org/content/early/2016/08/24/066548.abstract
AB 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