A vast resource of allelic expression data spanning human tissues
Authors: Castel Stephane E. , Aguet François , Mohammadi Pejman ,   GTEx Consortium, Aguet François , Anand Shankara , Ardlie Kristin G. , Gabriel Stacey , Getz Gad A. , Graubert Aaron , Hadley Kane , Handsaker Robert E. , Huang Katherine H. , Kashin Seva , Li Xiao , MacArthur Daniel G. , Meier Samuel R. , Nedzel Jared L. , Nguyen Duyen T. , Segrè Ayellet V. , Todres Ellen , Aguet François , Anand Shankara , Ardlie Kristin G. , Balliu Brunilda , Barbeira Alvaro N. , Battle Alexis , Bonazzola Rodrigo , Brown Andrew , Brown Christopher D. , Castel Stephane E. , Conrad Donald F. , Cotter Daniel J. , Cox Nancy , Das Sayantan , de Goede Olivia M. , Dermitzakis Emmanouil T. , Einson Jonah , Engelhardt Barbara E. , Eskin Eleazar , Eulalio Tiffany Y. , Ferraro Nicole M. , Flynn Elise D. , Fresard Laure , Gamazon Eric R. , Garrido-Martín Diego , Gay Nicole R. , Getz Gad A. , Gloudemans Michael J. , Graubert Aaron , Guigó Roderic , Hadley Kane , Hame Andrew R. , Handsaker Robert E. , He Yuan , Hoffman Paul J. , Hormozdiari Farhad , Hou Lei , Huang Katherine H. , Im Hae Kyung , Jo Brian , Kasela Silva , Kashin Seva , Kellis Manolis , Kim-Hellmuth Sarah , Kwong Alan , Lappalainen Tuuli , Li Xiao , Li Xin , Liang Yanyu , MacArthur Daniel G. , Mangul Serghei , Meier Samuel R. , Mohammadi Pejman , Montgomery Stephen B. , Muñoz-Aguirre Manuel , Nachun Daniel C. , Nedzel Jared L. , Nguyen Duyen T. , Nobel Andrew B. , Oliva Meritxell , Park Yo Son , Park Yongjin , Parsana Princy , Rao Abhiram S. , Reverter Ferran , Rouhana John M. , Sabatti Chiara , Saha Ashis , Segrè Ayellet V. , Skol Andrew D. , Stephens Matthew , Stranger Barbara E. , Strober Benjamin J. , Teran Nicole A. , Todres Ellen , Viñuela Ana , Wang Gao , Wen Xiaoquan , Wright Fred , Wucher Valentin , Zou Yuxin , Ferreira Pedro G. , Li Gen , Melé Marta , Yeger-Lotem Esti , Barcus Mary E. , Bradbury Debra , Krubit Tanya , McLean Jeffrey A. , Qi Liqun , Robinson Karna , Roche Nancy V. , Smith Anna M. , Sobin Leslie , Tabor David E. , Undale Anita , Bridge Jason , Brigham Lori E. , Foster Barbara A. , Gillard Bryan M. , Hasz Richard , Hunter Marcus , Johns Christopher , Johnson Mark , Karasik Ellen , Kopen Gene , Leinweber William F. , McDonald Alisa , Moser Michael T. , Myer Kevin , Ramsey Kimberley D. , Roe Brian , Shad Saboor , Thomas Jeffrey A. , Walters Gary , Washington Michael , Wheeler Joseph , Jewell Scott D. , Rohrer Daniel C. , Valley Dana R. , Davis David A. , Mash Deborah C. , Barcus Mary E. , Branton Philip A. , Sobin Leslie , Barker Laura K. , Gardiner Heather M. , Mosavel Maghboeba , Siminoff Laura A. , Flicek Paul , Haeussler Maximilian , Juettemann Thomas , Kent W. James , Lee Christopher M. , Powell Conner C. , Rosenbloom Kate R. , Ruffier Magali , Sheppard Dan , Taylor Kieron , Trevanion Stephen J. , Zerbino Daniel R. , Abell Nathan S. , Akey Joshua , Chen Lin , Demanelis Kathryn , Doherty Jennifer A. , Feinberg Andrew P. , Hansen Kasper D. , Hickey Peter F. , Hou Lei , Jasmine Farzana , Jiang Lihua , Kaul Rajinder , Kellis Manolis , Kibriya Muhammad G. , Li Jin Billy , Li Qin , Lin Shin , Linder Sandra E. , Montgomery Stephen B. , Oliva Meritxell , Park Yongjin , Pierce Brandon L. , Rizzardi Lindsay F. , Skol Andrew D. , Smith Kevin S. , Snyder Michael , Stamatoyannopoulos John , Stranger Barbara E. , Tang Hua , Wang Meng , Branton Philip A. , Carithers Latarsha J. , Guan Ping , Koester Susan E. , Little A. Roger , Moore Helen M. , Nierras Concepcion R. , Rao Abhi K. , Vaught Jimmie B. , Volpi Simona , Ardlie Kristin G. , Lappalainen Tuuli 
Published: September 2020

AbstractAllele expression (AE) analysis robustly measures cis-regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from the GTEx v8 release, containing 15,253 samples spanning 54 human tissues for a total of 431 million measurements of AE at the SNP level and 153 million measurements at the haplotype level. In addition, we develop an extension of our tool phASER that allows effect sizes of cis-regulatory variants to be estimated using haplotype-level AE data. This AE resource is the largest to date, and we are able to make haplotype-level data publicly available. We anticipate that the availability of this resource will enable future studies of regulatory variation across human tissues.