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Brain xQTL Map: Integrating The Genetic Architecture Of The Human Brain Transcriptome And Epigenome

By B Ng, CC White, H Klein, SK Sieberts, C McCabe, E Patrick, J Xu, L Yu, C Gaiteri, DA Bennett, Sara Mostafavi, De Jager PL

Posted 27 May 2017
bioRxiv DOI: 10.1101/142927

We perform quantitative trait locus (xQTL) analyses on a multi-omic dataset, comprising RNA sequence, DNA methylation, and histone acetylation ChIP sequence data from the dorsolateral prefrontal cortex of 411 older adult individuals. We identify SNPs that are significantly associated with gene expression, DNA methylation, and histone modification levels. Many SNPs influence more than one type of molecular feature, and epigenetic features are shown to mediate eQTLs in a number of (9%) such loci. We illustrate the utility of our new resource, xQTL Serve, in prioritizing the cell type most affected by an xQTL and in enhancing genome wide association studies (GWAS) as we report 18 additional CNS disease susceptibility loci after re-analyzing published studies.

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