Article
Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data.
PloS one - 1 Jan 2017
Bien Stephanie A, Auer Paul L, Harrison Tabitha A, Qu Conghui, Connolly Charles M, Greenside Peyton G, Chen Sai, Berndt Sonja I, Bézieau Stéphane, Kang Hyun M, Huyghe Jeroen, Brenner Hermann, Casey Graham, Chan Andrew T, Hopper John L, Banbury Barbara L, Chang-Claude Jenny, Chanock Stephen J, Haile Robert W, Hoffmeister Michael, Fuchsberger Christian, Jenkins Mark A, Leal Suzanne M, Lemire Mathieu, Newcomb Polly A, Gallinger Steven, Potter John D, Schoen Robert E, Slattery Martha L, Smith Joshua D, Le Marchand Loic, White Emily, Zanke Brent W, Abeçasis Goncalo R, Carlson Christopher S, Peters Ulrike, Nickerson Deborah A, Kundaje Anshul, Hsu Li
Abstract excerpt
BACKGROUND: The evaluation of less frequent genetic variants and their effect on complex disease pose new challenges for genomic research. To investigate whether epigenetic data can be used to inform aggregate rare-variant association methods (RVAM), we assessed whether variants more significantly associated with colorectal cancer (CRC) were preferentially located in non-coding regulatory regions, and whether...
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