High-resolution full-length HLA typing method using third generation (pac-bio SMRT) sequencing technology

Abstract

The human HLA genes are among the most polymorphic genes in the human genome. Therefore, it is very difficult to find two unrelated individuals with identical HLA molecules. As a result, HLA Class I and Class II genes are routinely sequenced or serotyped for organ transplantation, autoimmune disease-association studies, drug hypersensitivity research, and other applications. However, these methods were able to give two or four digit data, which was not sufficient enough to understand the completeness of haplotypes of HLA genes. To overcome these limitations, we here described end-to-end workflow for sequencing of HLA class I and class II genes using third generation sequencing, SMRT technology. This method produces fully-phased, unambiguous, allele-level information on the PacBio System.