PMID- 23748956 OWN - NLM STAT- MEDLINE DCOM- 20131104 LR - 20211021 IS - 1362-4962 (Electronic) IS - 0305-1048 (Print) IS - 0305-1048 (Linking) VI - 41 IP - 14 DP - 2013 Aug TI - ATHLATES: accurate typing of human leukocyte antigen through exome sequencing. PG - e142 LID - 10.1093/nar/gkt481 [doi] AB - Human leukocyte antigen (HLA) typing at the allelic level can in theory be achieved using whole exome sequencing (exome-seq) data with no added cost but has been hindered by its computational challenge. We developed ATHLATES, a program that applies assembly, allele identification and allelic pair inference to short read sequences, and applied it to data from Illumina platforms. In 15 data sets with adequate coverage for HLA-A, -B, -C, -DRB1 and -DQB1 genes, ATHLATES correctly reported 74 out of 75 allelic pairs with an overall concordance rate of 99% compared with conventional typing. This novel approach should be broadly applicable to research and clinical laboratories. FAU - Liu, Chang AU - Liu C AD - Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA. FAU - Yang, Xiao AU - Yang X FAU - Duffy, Brian AU - Duffy B FAU - Mohanakumar, Thalachallour AU - Mohanakumar T FAU - Mitra, Robi D AU - Mitra RD FAU - Zody, Michael C AU - Zody MC FAU - Pfeifer, John D AU - Pfeifer JD LA - eng PT - Journal Article PT - Research Support, N.I.H., Extramural DEP - 20130608 PL - England TA - Nucleic Acids Res JT - Nucleic acids research JID - 0411011 RN - 0 (HLA Antigens) SB - IM MH - Alleles MH - *Exome MH - HLA Antigens/classification/*genetics MH - Histocompatibility Testing/*methods MH - Humans MH - Sequence Analysis, DNA/*methods MH - *Software PMC - PMC3737559 EDAT- 2013/06/12 06:00 MHDA- 2013/11/05 06:00 PMCR- 2013/06/08 CRDT- 2013/06/11 06:00 PHST- 2013/06/11 06:00 [entrez] PHST- 2013/06/12 06:00 [pubmed] PHST- 2013/11/05 06:00 [medline] PHST- 2013/06/08 00:00 [pmc-release] AID - gkt481 [pii] AID - 10.1093/nar/gkt481 [doi] PST - ppublish SO - Nucleic Acids Res. 2013 Aug;41(14):e142. doi: 10.1093/nar/gkt481. Epub 2013 Jun 8.