Journal article

Intergenic disease-associated regions are abundant in novel transcripts

N Bartonicek, MB Clark, XC Quek, JR Torpy, AL Pritchard, JLV Maag, BS Gloss, J Crawford, RJ Taft, NK Hayward, GW Montgomery, JS Mattick, TR Mercer, ME Dinger

GENOME BIOLOGY | BMC | Published : 2017

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 5..

View full abstract

University of Melbourne Researchers

Grants

Awarded by Australian National Health and Medical Research Council (NHMRC) Early Career Fellowship


Awarded by EMBO Long Term Fellowship


Funding Acknowledgements

The authors acknowledge the following funding sources: Australian National Health and Medical Research Council (NHMRC) Early Career Fellowship (APP1072662 to MBC), EMBO Long Term Fellowship (ALTF 864-2013 to MBC), and the Garvan Research Foundation. The contents of the published material are solely the responsibility of the administering institution, a participating institution or individual authors and do not reflect the views of NHMRC.