The MHC in the era of next-generation sequencing: Implications for bridging structure with function.

ABSTRACT: The MHC continues to have the most disease-associations compared to other regions of the human genome, even in the genome-wide association study (GWAS) and single nucleotide polymorphism (SNP) era. Analysis of non-coding variation and their impact on the level of expression of HLA allotypes has shed new light on the potential mechanisms underlying HLA disease associations and alloreactivity in transplantation. Next-generation sequencing (NGS) technology has the capability of delineating the phase of variants in the HLA antigen-recognition site (ARS) with non-coding regulatory polymorphisms. These relationships are critical for understanding the qualitative and quantitative implications of HLA gene diversity. This article summarizes current understanding of non-coding region variation of HL

SUBMITTER: Petersdorf EW 

PROVIDER: S-EPMC6542361 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature