Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

Manuel A. Rivas; Matti Pirinen; Donald F. Conrad; Monkol Lek; Emily K. Tsang; Konrad J. Karczewski; Julian B. Maller; Kimberly R. Kukurba; David S. DeLuca; Menachem Fromer; Pedro G. Ferreira; Kevin S. Smith; Rui Zhang; Fengmei Zhao; Eric Banks; Ryan Poplin; Douglas M. Ruderfer; Shaun M. Purcell; Taru Tukiainen; Eric V. Minikel; Peter D. Stenson; David N. Cooper; Katharine H. Huang; Timothy J. Sullivan; Jared Nedzel; Carlos D. Bustamante; Jin Billy Li; Mark J. Daly; Roderic Guigo; Peter Donnelly; Kristin Ardlie; Michael Sammeth; Emmanouil T. Dermitzakis; Mark I. McCarthy; Stephen B. Montgomery; Tuuli Lappalainen; Daniel G. MacArthur; Ayellet V. Segre; Taylor R. Young; Ellen T. Gelfand; Casandra A. Trowbridge; Lucas D. Ward; Pouya Kheradpour; Benjamin Iriarte; Yan Meng; Cameron D. Palmer; Tonu Esko; Wendy Winckler; Joel Hirschhorn; Manolis Kellis; Gad Getz; Andrey A. Shablin; Gen Li; Yi-Hui Zhou; Andrew B. Nobel; Ivan Rusyn; Fred A. Wright; Alexis Battle; Sara Mostafavi; Marta Mele; Ferran Reverter; Jakob Goldmann; Daphne Koller; Eric R. Gamazon; Hae Kyung Im; Anuar Konkashbaev; Dan L. Nicolae; Nancy J. Cox; Timothe Flutre; Xiaoquan Wen; Matthew Stephens; Jonathan K. Pritchard; Zhidong Tu; Bin Zhang; Tao Huang; Quan Long; Luan Lin; Jialiang Yang; Jun Zhu; Jun Liu; Amanda Brown; Bernadette Mestichelli; Denee Tidwell; Edmund Lo; Mike Salvatore; Saboor Shad; Jeffrey A. Thomas; John T. Lonsdale; Roswell Christopher Choi; Ellen Karasik; Kimberly Ramsey; Michael T. Moser; Barbara A. Foster; Bryan M. Gillard; John Syron; Johnelle Fleming; Harold Magazine; Rick Hasz; Gary D. Walters; Jason P. Bridge; Mark Miklos; Susan Sullivan; Laura K. Barker; Heather Traino; Magboeba Mosavel; Laura A. Siminoff; Dana R. Valley; Daniel C. Rohrer; Scott Jewel; Philip Branton; Leslie H. Sobin; Mary Barcus; Liqun Qi; Pushpa Hariharan; Shenpei Wu; David Tabor; Charles Shive; Anna M. Smith; Stephen A. Buia; Anita H. Undale; Karna L. Robinson; Nancy Roche; Kimberly M. Valentino; Angela Britton; Robin Burges; Debra Bradbury; Kenneth W. Hambright; John Seleski; Greg E. Korzeniewski; Kenyon Erickson; Yvonne Marcus; Jorge Tejada; Mehran Taherian; Chunrong Lu; Barnaby E. Robles; Margaret Basile; Deborah C. Mash; Simona Volpi; Jeffery P. Struewing; Gary F. Temple; Joy Boyer; Deborah Colantuoni; Roger Little; Susan Koester; Latarsha J. Carithers; Helen M. Moore; Ping Guan; Carolyn Compton; Sherilyn J. Sawyer; Joanne P. Demchok; Jimmie B. Vaught; Chana A. Rabiner; Nicole C. Lockhart; Marc R. Friedlander; P. A. C. 't Hoen; Jean Monlong; Mar Gonzalez-Porta; Natalja Kurbatova; Thasso Griebel; Matthias Barann; Thomas Wieland; Liliana Greger; Maarten van Iterson; Jonas Almlof; Paolo Ribeca; Irina Pulyakhina; Daniela Esser; Thomas Giger; Andrew Tikhonov; Marc Sultan; Gabrielle Bertier; Esther Lizano; Henk P. J. Buermans; Ismael Padioleau; Thomas Schwarzmayr; Olof Karlberg; Halit Ongen; Helena Kilpinen; Sergi Beltran; Marta Gut; Katja Kahlem; Vyacheslav Amstislavskiy; Oliver Stegle; Paul Flicek; Tim M. Strom; Hans Lehrach; Stefan Schreiber; Ralf Sudbrak; Angel Carracedo; Stylianos E. Antonarakis; Robert Hasler; Ann-Christine Syvanen; Gert-Jan van Ommen; Alvis Brazma; Thomas Meitinger; Philip Rosenstiel; Ivo G. Gut; Xavier Estivill; A. V. Segre; T. R. Young; E. T. Gelfand; C. A. Trowbridge; L. D. Ward; P. Kheradpour; B. Iriarte; Y. Meng; C. D. Palmer; T. Esko; W. Winckler; J. Hirschhorn; M. Kellis; G. Getz; A. A. Shablin; G. Li; Y.-H. Zhou; A. B. Nobel; I. Rusyn; F. A. Wright; A. Battle; S. Mostafavi; M. Mele; F. Reverter; J. Goldmann; D. Koller; E. R. Gamazon; H. K. Im; A. Konkashbaev; D. L. Nicolae; N. J. Cox; T. Flutre; X. Wen; M. Stephens; J. K. Pritchard; Z. Tu; B. Zhang; T. Huang; Q. Long; L. Lin; J. Yang; J. Zhu; J. Liu; A. Brown; B. Mestichelli; D. Tidwell; E. Lo; M. Salvatore; S. Shad; J. A. Thomas; J. T. Lonsdale; R. C. Choi; E. Karasik; K. Ramsey; M. T. Moser; B. A. Foster; B. M. Gillard; J. Syron; J. Fleming; H. Magazine; R. Hasz; G. D. Walters; J. P. Bridge; M. Miklos; S. Sullivan; L. K. Barker; H. Traino; M. Mosavel; L. A. Siminoff; D. R. Valley; D. C. Rohrer; S. Jewel; P. Branton; L. H. Sobin; M. Barcus; L. Qi; P. Hariharan; S. Wu; D. Tabor; C. Shive; A. M. Smith; S. A. Buia; A. H. Undale; K. L. Robinson; N. Roche; K. M. Valentino; A. Britton; R. Burges; D. Bradbury; K. W. Hambright; J. Seleski; G. E. Korzeniewski; K. Erickson; Y. Marcus; J. Tejada; M. Taherian; C. Lu; B. E. Robles; M. Basile; D. C. Mash; S. Volpi; J. P. Struewing; G. F. Temple; J. Boyer; D. Colantuoni; R. Little; S. Koester; L. J. Carithers; H. M. Moore; P. Guan; C. Compton; S. J. Sawyer; J. P. Demchok; J. B. Vaught; C. A. Rabiner; N. C. Lockhart; M. R. Friedlander; P. A. C. 't Hoen; J. Monlong; M. Gonzalez-Porta; N. Kurbatova; T. Griebel; M. Barann; T. Wieland; L. Greger; M. van Iterson; J. Almlof; P. Ribeca; I. Pulyakhina; D. Esser; T. Giger; A. Tikhonov; M. Sultan; G. Bertier; E. Lizano; H. P. J. Buermans; I. Padioleau; T. Schwarzmayr; O. Karlberg; H. Ongen; H. Kilpinen; S. Beltran; M. Gut; K. Kahlem; V. Amstislavskiy; O. Stegle; P. Flicek; T. M. Strom; H. Lehrach; S. Schreiber; R. Sudbrak; A. Carracedo; S. E. Antonarakis; R. Hasler; A.-C. Syvanen; G.-J. van Ommen; A. Brazma; T. Meitinger; P. Rosenstiel; I. G. Gut; X. Estivill; Tuuli Lappalainen; Daniel G MacArthur

Science (2015) - Comment
pubmed: 25954003 doi: 10.1126/science.1261877 issn: 1095-9203 issn: 0036-8075

Manuel A. Rivas, Matti Pirinen, Donald F. Conrad, Monkol Lek, Emily K. Tsang, Konrad J. Karczewski, Julian B. Maller, Kimberly R. Kukurba, David S. DeLuca, Menachem Fromer, Pedro G. Ferreira, Kevin S. Smith, Rui Zhang, Fengmei Zhao, Eric Banks, Ryan Poplin, Douglas M. Ruderfer, Shaun M. Purcell, Taru Tukiainen, Eric V. Minikel

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American Association for the Advancement of Science (AAAS)