NABEC CAGE Sequencing of Human Cerebral Frontal Cortex

In this paper (Blauwendraat et al., 2016, PMID: 27287230) we describe a comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. Correlations are made between common genetic variability across the human genome and gene expression values obtained from neurologically normal human frontal cortex brain. Genotypes were generated using Illumina arrays and whole-exome sequencing followed by imputation, which resulted in total ~5 million variants. Gene expression level were created using CAGE sequencing. CAGE sequencing captures all 5' ends of capped RNA transcripts and subsequent sequencing results in short (~27 bp) reads representing mainly transcription start sites. In total, we identified 2410 eQTLs and show overlap between eQTLs and several GWAS hits.