Rare variant test set.
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posted on 2017-11-21, 18:41 authored by Stephanie A. Bien, Paul L. Auer, Tabitha A. Harrison, Conghui Qu, Charles M. Connolly, Peyton G. Greenside, Sai Chen, Sonja I. Berndt, Stéphane Bézieau, Hyun M. Kang, Jeroen Huyghe, Hermann Brenner, Graham Casey, Andrew T. Chan, John L. Hopper, Barbara L. Banbury, Jenny Chang-Claude, Stephen J. Chanock, Robert W. Haile, Michael Hoffmeister, Christian Fuchsberger, Mark A. Jenkins, Suzanne M. Leal, Mathieu Lemire, Polly A. Newcomb, Steven Gallinger, John D. Potter, Robert E. Schoen, Martha L. Slattery, Joshua D. Smith, Loic Le Marchand, Emily White, Brent W. Zanke, Goncalo R. Abeçasis, Christopher S. Carlson, Ulrike Peters, Deborah A. Nickerson, Anshul Kundaje, Li HsuVariant 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.
