Intergenic disease-associated regions are abundant in novel transcripts.

ABSTRACT:

Background

Genotyping of large populations through genome-wide association studies (GWAS) has successfully identified many genomic variants associated with traits or disease risk. Unexpectedly, a large proportion of GWAS single nucleotide polymorphisms (SNPs) and associated haplotype blocks are in intronic and intergenic regions, hindering their functional evaluation. While some of these risk-susceptibility regions encompass cis-regulatory sites, their transcriptional potential has never been systematically explored.

Results

To detect rare tissue-specific expression, we employed the transcript-enrichment method CaptureSeq on 21 human tissues to identify 1775 multi-exonic transcripts from 561 intronic and intergenic haploblocks associated with 392 traits and diseases, coverin

SUBMITTER: Bartonicek N 

PROVIDER: S-EPMC5747244 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature