학술논문

Fast and accurate HLA typing from short-read next-generation sequence data with xHLA.
Document Type
Article
Source
Proceedings of the National Academy of Sciences of the United States of America. 7/25/2017, Vol. 114 Issue 30, p8059-8064. 6p.
Subject
*HUMAN chromosomes
*GENETIC polymorphisms
*HUMAN genome
*ALLELES
*AUTOIMMUNE diseases
Language
ISSN
0027-8424
Abstract
The HLA gene complex on human chromosome 6 is one of the most polymorphic regions in the human genome and contributes in large part to the diversity of the immune system. Accurate typing of HLA genes with short-read sequencing data has historically been difficult due to the sequence similarity between the polymorphic alleles. Here, we introduce an algorithm, xHLA, that iteratively refines the mapping results at the amino acid level to achieve 99-100% four-digit typing accuracy for both class I and II HLA genes, taking only ~3 min to process a 30x whole-genome BAM file on a desktop computer. [ABSTRACT FROM AUTHOR]