Ontology highlight
ABSTRACT:
SUBMITTER: Shukla SA
PROVIDER: S-EPMC4747795 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Shukla Sachet A SA Rooney Michael S MS Rajasagi Mohini M Tiao Grace G Dixon Philip M PM Lawrence Michael S MS Stevens Jonathan J Lane William J WJ Dellagatta Jamie L JL Steelman Scott S Sougnez Carrie C Cibulskis Kristian K Kiezun Adam A Hacohen Nir N Brusic Vladimir V Wu Catherine J CJ Getz Gad G
Nature biotechnology 20151101 11
Detection of somatic mutations in human leukocyte antigen (HLA) genes using whole-exome sequencing (WES) is hampered by the high polymorphism of the HLA loci, which prevents alignment of sequencing reads to the human reference genome. We describe a computational pipeline that enables accurate inference of germline alleles of class I HLA-A, B and C genes and subsequent detection of mutations in these genes using the inferred alleles as a reference. Analysis of WES data from 7,930 pairs of tumor a ...[more]