ATHLATES: accurate typing of human leukocyte antigen through exome sequencing

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 in...

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Detalles Bibliográficos
Autores principales: Liu, Chang, Yang, Xiao, Duffy, Brian, Mohanakumar, Thalachallour, Mitra, Robi D., Zody, Michael C., Pfeifer, John D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Methods Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3737559/
https://www.ncbi.nlm.nih.gov/pubmed/23748956
http://dx.doi.org/10.1093/nar/gkt481
Descripción
Sumario: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.

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