HLA-MA: simple yet powerful matching of samples using HLA typing results

Clemens Messerschmidt, Manuel Holtgrewe, Dieter Beule, Alfonso Valencia
2017 Bioinformatics  
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
more » ... 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.
doi:10.1093/bioinformatics/btx132 pmid:28334360 fatcat:ul3v6mu7mvg2xi7yuqrn2abk24