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- W2896695187 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 HLA loci, the consequences of regulatory variation on HLA expression, the role for evolution in shaping lineage-specific expression, and the impact of HLA expression on disease susceptibility and transplantation outcomes. A role for phased sequencing methods for the MHC, and perspectives for future directions in basic and applied immunogenetic studies of the MHC are presented." @default.
- W2896695187 created "2018-10-26" @default.
- W2896695187 creator A5011933633 @default.
- W2896695187 creator A5060725545 @default.
- W2896695187 date "2019-01-01" @default.
- W2896695187 modified "2023-09-30" @default.
- W2896695187 title "The MHC in the era of next-generation sequencing: Implications for bridging structure with function" @default.
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