Transcriptomic signatures across human tissues identify functional rare genetic variation
Authors: Ferraro Nicole M. , Strober Benjamin J. , Einson Jonah , Abell Nathan S. , Aguet Francois , Barbeira Alvaro N. , Brandt Margot , Bucan Maja , Castel Stephane E. , Davis Joe R. , Greenwald Emily , Hess Gaelen T. , Hilliard Austin T. , Kember Rachel L. , Kotis Bence , Park YoSon , Peloso Gina , Ramdas Shweta , Scott Alexandra J. , Smail Craig , Tsang Emily K. , Zekavat Seyedeh M. , Ziosi Marcello , Aradhana  ,   TOPMed Lipids Working Group, Ardlie Kristin G. , Assimes Themistocles L. , Bassik Michael C. , Brown Christopher D. , Correa Adolfo , Hall Ira , Im Hae Kyung , Li Xin , Natarajan Pradeep ,   GTEx Consortium, Lappalainen Tuuli , Mohammadi Pejman , Montgomery Stephen B. , Battle Alexis , 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 , 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. , Gloudemans Michael J. , Guigó Roderic , Hame Andrew R. , He Yuan , Hoffman Paul J. , Hormozdiari Farhad , Hou Lei , Im Hae Kyung , Jo Brian , Kasela Silva , Kellis Manolis , Kim-Hellmuth Sarah , Kwong Alan , Lappalainen Tuuli , Li Xin , Liang Yanyu , Mangul Serghei , Mohammadi Pejman , Montgomery Stephen B. , Muñoz-Aguirre Manuel , Nachun Daniel C. , Nobel Andrew B. , Oliva Meritxell , Park YoSon , Park Yongjin , Parsana Princy , Rao Abhiram S. , Reverter Ferran , Rouhana John M. , Sabatti Chiara , Saha Ashis , Stephens Matthew , Stranger Barbara E. , Strober Benjamin J. , Teran Nicole A. , 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. , Branton Philip A. , 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. , Jasmine Farzana , Jiang Lihua , Kaul Rajinder , Kibriya Muhammad G. , Li Jin Billy , Li Qin , Lin Shin , Linder Sandra E. , Pierce Brandon L. , Rizzardi Lindsay F. , Skol Andrew D. , Smith Kevin S. , Snyder Michael , Stamatoyannopoulos John , Tang Hua , Wang Meng , 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 
Published: September 2020

Outliers in the human transcriptome reveal the functional effects of rare genetic variants.