Scientific Publications

ATHLATES: accurate typing of human leukocyte antigen through exome sequencing.

Publication TypeJournal Article
AuthorsLiu, C., Yang X., Duffy B., Mohanakumar T., Mitra RD, Zody MC, and Pfeifer JD
AbstractHuman 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.
Year of Publication2013
JournalNucleic acids research
Date Published (YYYY/MM/DD)2013/06/08
ISSN Number0305-1048
DOI10.1093/nar/gkt481
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/23748956?dopt=Abstract