%0 Figure %A Bien, Stephanie A. %A Auer, Paul L. %A A. Harrison, Tabitha %A Qu, Conghui %A Connolly, Charles M. %A Greenside, Peyton G. %A Chen, Sai %A I. Berndt, Sonja %A Bézieau, Stéphane %A M. Kang, Hyun %A Huyghe, Jeroen %A Brenner, Hermann %A Casey, Graham %A T. Chan, Andrew %A L. Hopper, John %A Banbury, Barbara L. %A Chang-Claude, Jenny %A J. Chanock, Stephen %A W. Haile, Robert %A Hoffmeister, Michael %A Fuchsberger, Christian %A A. Jenkins, Mark %A M. Leal, Suzanne %A Lemire, Mathieu %A A. Newcomb, Polly %A Gallinger, Steven %A D. Potter, John %A E. Schoen, Robert %A L. Slattery, Martha %A D. Smith, Joshua %A Marchand, Loic Le %A White, Emily %A W. Zanke, Brent %A Abeçasis, Goncalo R. %A S. Carlson, Christopher %A Peters, Ulrike %A A. Nickerson, Deborah %A Kundaje, Anshul %A Hsu, Li %D 2017 %T Rare variant test set. %U https://plos.figshare.com/articles/figure/Rare_variant_test_set_/5623192 %R 10.1371/journal.pone.0186518.g005 %2 https://plos.figshare.com/ndownloader/files/9793339 %K colorectal cancer associations %K CRC association p-values %K genome sequence-imputed GWAS data Background %K non-digestive tissues %K rare-variant association methods %K TSS %K CRC-variant associations %K NIH Roadmap Epigenomics %K RVAM %K CRC-set association p-values %K DNA %K ENCODE %K future association studies %K ARE %K enrichment %X

Variant sets were anchored on Transcription Start Sites (TSS) as defined by protein coding gene transcripts with validated RefSeq records. If a gene had multiple TSS, the 5'-most and 3'-most TSS were used as anchors. Accordingly, variants overlapping ARE within 200Kb of a TSS were pooled into a test set.

%I PLOS ONE