Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

June 10, 2015

Func. Impact of Rare…Variation from Deep Sequencing…Exomes http://www.sciencemag.org/content/337/6090/64.abstract Relation to Protein Structural features (eg a-helices)

Science 6 July 2012:
Vol. 337 no. 6090 pp. 64-69
DOI: 10.1126/science.1219240

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen1,*,
Abigail W. Bigham2,*,†,
Timothy D. O’Connor1,*,
Wenqing Fu1,
Eimear E. Kenny3,
Simon Gravel3,
Sean McGee1,
Ron Do4,5,
Xiaoming Liu6,
Goo Jun7,
Hyun Min Kang7,
Daniel Jordan8,
Suzanne M. Leal9,
Stacey Gabriel4,
Mark J. Rieder1,
Goncalo Abecasis7,
David Altshuler4,
Deborah A. Nickerson1,
Eric Boerwinkle6,10,
Shamil Sunyaev4,8,
Carlos D. Bustamante3,
Michael J. Bamshad1,2,‡,
Joshua M. Akey1,‡,
Broad GO,
Seattle GO,
on behalf of the NHLBI Exome Sequencing Project