Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

N. Barbeira, Alvaro; P. Dickinson, Scott; Bonazzola, Rodrigo; Zheng, Jiamao; E. Wheeler, Heather; M. Torres, Jason; S. Torstenson, Eric; P. Shah, Kaanan; Garcia, Tzintzuni; L. Edwards, Todd; A. Stahl, Eli; M. Huckins, Laura; Consortium, GTEx; Data Analysis & Coordinating Center (LDACC)—Analysis Working Group, Laboratory,; Aguet, François; G. Ardlie, Kristin; B. Cummings, Beryl; T. Gelfand, Ellen; Getz, Gad; Hadley, Kane; E. Handsaker, Robert; H. Huang, Katherine; Kashin, Seva; J. Karczewski, Konrad; Lek, Monkol; Li, Xiao; G. MacArthur, Daniel; L. Nedzel, Jared; T. Nguyen, Duyen; S. Noble, Michael; V. Segrè, Ayellet; A. Trowbridge, Casandra; Tukiainen, Taru; Methods groups—Analysis Working Group, Statistical; S. Abell, Nathan; Balliu, Brunilda; Barshir, Ruth; Basha, Omer; Battle, Alexis; K. Bogu, Gireesh; Brown, Andrew; D. Brown, Christopher; E. Castel, Stephane; S. Chen, Lin; Chiang, Colby; F. Conrad, Donald; N. Damani, Farhan; R. Davis, Joe; Delaneau, Olivier; T. Dermitzakis, Emmanouil; E. Engelhardt, Barbara; Eskin, Eleazar; G. Ferreira, Pedro; Frésard, Laure; R. Gamazon, Eric; Garrido-Martín, Diego; D. H. Gewirtz, Ariel; Gliner, Genna; J. Gloudemans, Michael; Guigo, Roderic; M. Hall, Ira; Han, Buhm; He, Yuan; Hormozdiari, Farhad; Howald, Cedric; Jo, Brian; Yong Kang, Eun; Kim, Yungil; Kim-Hellmuth, Sarah; Lappalainen, Tuuli; Li, Gen; Li, Xin; Liu, Boxiang; Mangul, Serghei; I. McCarthy, Mark; C. McDowell, Ian; Mohammadi, Pejman; Monlong, Jean; B. Montgomery, Stephen; Muñoz-Aguirre, Manuel; W. Ndungu, Anne; B. Nobel, Andrew; Oliva, Meritxell; Ongen, Halit; J. Palowitch, John; Panousis, Nikolaos; Papasaikas, Panagiotis; Park, YoSon; Parsana, Princy; J. Payne, Anthony; B. Peterson, Christine; Quan, Jie; Reverter, Ferran; Sabatti, Chiara; Saha, Ashis; Sammeth, Michael; J. Scott, Alexandra; A. Shabalin, Andrey; Sodaei, Reza; Stephens, Matthew; E. Stranger, Barbara; J. Strober, Benjamin; Hoon Sul, Jae; K. Tsang, Emily; Urbut, Sarah; van de Bunt, Martijn; Wang, Gao; Wen, Xiaoquan; A. Wright, Fred; S. Xi, Hualin; Yeger-Lotem, Esti; Zappala, Zachary; B. Zaugg, Judith; Zhou, Yi-Hui; GTEx (eGTEx) groups, Enhancing; M. Akey, Joshua; Bates, Daniel; Chan, Joanne; S. Chen, Lin; Claussnitzer, Melina; Demanelis, Kathryn; Diegel, Morgan; A. Doherty, Jennifer; P. Feinberg, Andrew; S. Fernando, Marian; Halow, Jessica; D. Hansen, Kasper; Haugen, Eric; F. Hickey, Peter; Hou, Lei; Jasmine, Farzana; Jian, Ruiqi; Jiang, Lihua; Johnson, Audra; Kaul, Rajinder; Kellis, Manolis; G. Kibriya, Muhammad; Lee, Kristen; Billy Li, Jin; Li, Qin; Li, Xiao; Lin, Jessica; Lin, Shin; Linder, Sandra; Linke, Caroline; Liu, Yaping; T. Maurano, Matthew; Molinie, Benoit; B. Montgomery, Stephen; Nelson, Jemma; J. Neri, Fidencio; Oliva, Meritxell; Park, Yongjin; L. Pierce, Brandon; J. Rinaldi, Nicola; F. Rizzardi, Lindsay; Sandstrom, Richard; Skol, Andrew; S. Smith, Kevin; P. Snyder, Michael; Stamatoyannopoulos, John; E. Stranger, Barbara; Tang, Hua; K. Tsang, Emily; Wang, Li; Wang, Meng; Van Wittenberghe, Nicholas; Wu, Fan; Zhang, Rui; Common Fund, NIH; R. Nierras, Concepcion; , NIH/NCI; A. Branton, Philip; J. Carithers, Latarsha; Guan, Ping; M. Moore, Helen; Rao, Abhi; B. Vaught, Jimmie; , NIH/NHGrI; E. Gould, Sarah; C. Lockart, Nicole; Martin, Casey; P. Struewing, Jeffery; Volpi, Simona; , NIH/NIMH; M. Addington, Anjene; E. Koester, Susan; , NIH/NIDA; Roger Little, A.; Collection Source Site—NDrI, Biospecimen; E. Brigham, Lori; Hasz, Richard; Hunter, Marcus; Johns, Christopher; Johnson, Mark; Kopen, Gene; F. Leinweber, William; T. Lonsdale, John; McDonald, Alisa; Mestichelli, Bernadette

doi:10.1038/s41467-018-03621-1

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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Shared by NobleBlocks on May 8, 2018 • 12:00 AM UTC

Authors:

Alvaro N. Barbeira

Scott P. Dickinson

Rodrigo Bonazzola

Abstract

Abstract Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy and general robustness to miss...

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