The impact of rare variation on gene expression across tissues

Xin Li, Yungil Kim, Emily K. Tsang, Joe R. Davis, Farhan N. Damani, Colby Chiang, Gaelen T. Hess, Zachary Zappala, Benjamin J. Strober, Alexandra J. Scott, Amy Li, Andrea Ganna, Michael C. Bassik, Jason D. Merker, Ira M. Hall, Alexis Battle () and Stephen B. Montgomery ()
Additional contact information
Xin Li: Stanford University
Yungil Kim: Johns Hopkins University
Emily K. Tsang: Stanford University
Joe R. Davis: Stanford University
Farhan N. Damani: Johns Hopkins University
Colby Chiang: McDonnell Genome Institute, Washington University School of Medicine
Gaelen T. Hess: Stanford University
Zachary Zappala: Stanford University
Benjamin J. Strober: Johns Hopkins University
Alexandra J. Scott: McDonnell Genome Institute, Washington University School of Medicine
Amy Li: Stanford University
Andrea Ganna: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Michael C. Bassik: Stanford University
Jason D. Merker: Stanford University
Ira M. Hall: McDonnell Genome Institute, Washington University School of Medicine
Alexis Battle: Johns Hopkins University
Stephen B. Montgomery: Stanford University

Nature, 2017, vol. 550, issue 7675, 239-243

Abstract: The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.

Date: 2017
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DOI: 10.1038/nature24267

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