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

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Item Type:Preprint
Title:HLA-MA: Simple yet powerful matching of samples using HLA typing results
Creators Name:Messerschmidt, C. and Holtgrewe, M. and Beule, D.
Abstract: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 OptiType. 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.
Source:bioRxiv
Publisher:Cold Spring Harbor Laboratory Press
Article Number:066548
Date:24 August 2016
Official Publication:https://doi.org/10.1101/066548
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https://edoc.mdc-berlin.de/16419/Final version

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