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
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
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Awarded by Australian National Health and Medical Research Council (NHMRC) Early Career Fellowship
Awarded by EMBO Long Term Fellowship
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.