Article
Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease.
eLife - 20 Nov 2019
D'Antonio Matteo, Reyna Joaquin, Jakubosky David, Donovan Margaret Kr, Bonder Marc-Jan, Matsui Hiroko, Stegle Oliver, Nariai Naoki, D'Antonio-Chronowska Agnieszka, Frazer Kelly A
Abstract excerpt
The MHC region is highly associated with autoimmune and infectious diseases. Here we conduct an in-depth interrogation of associations between genetic variation, gene expression and disease. We create a comprehensive map of regulatory variation in the MHC region using WGS from 419 individuals to call eight-digit HLA types and RNA-seq data from matched iPSCs. Building on this regulatory map, we explored GWAS...
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