HLA-MA: simple yet powerful matching of samples using HLA typing results
Author(s) -
Clemens Messerschmidt,
Manuel Holtgrewe,
Dieter Beule
Publication year - 2017
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btx132
Subject(s) - human leukocyte antigen , computer science , mit license , python (programming language) , typing , software , exome , matching (statistics) , consistency (knowledge bases) , genome , computational biology , data mining , genetics , biology , exome sequencing , artificial intelligence , programming language , gene , mathematics , mutation , statistics , antigen , speech recognition
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. Our approach uses information from small but genetically highly variable regions and thus complements approaches that rely on genome or exon-wide variant profiles.
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