Effect of predicted protein-truncating genetic variants on the human transcriptome
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, Consortium T, Consortium T, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG, Segre A, Young T, Gelfand E, Trowbridge C, Ward L, Kheradpour P, Iriarte B, Meng Y, Palmer C, Esko T, Winckler W, Hirschhorn J, Kellis M, Getz G, Shablin A, Li, Zhou Y, Nobel A, Rusyn I, Wright F, Battle A, Mostafavi S, Mele M, Reverter F, Goldmann J, Koller D, Gamazon E, Im H, Konkashbaev A, Nicolae D, Cox N, Flutre T, Wen X, Stephens M, Pritchard J, Tu Z, Zhang B, Huang T, Long Q, Lin L, Yang J, Zhu J, Liu J, Brown A, Mestichelli B, Tidwell D, Lo E, Salvatore M, Shad S, Thomas J, Lonsdale J, Choi R, Karasik E, Ramsey K, Moser M, Foster B, Gillard B, Syron J, Fleming J, Magazine H, Hasz R, Walters G, Bridge J, Miklos M, Sullivan S, Barker L, Traino H, Mosavel M, Siminoff L, Valley D, Rohrer D, Jewel S, Branton P, Sobin L, Barcus M, Qi L, Hariharan P, Wu S, Tabor D, Shive C, Smith A, Buia S, Undale A, Robinson K, Roche N, Valentino K, Britton A, Burges R, Bradbury D, Hambright K, Seleski J, Korzeniewski G, Erickson K, Marcus Y, Tejada J, Taherian M, Lu C, Robles B, Basile M, Mash D, Volpi S, Struewing J, Temple G, Boyer J, Colantuoni D, Little R, Koester S, Carithers L, Moore H, Guan P, Compton C, Sawyer S, Demchok J, Vaught J, Rabiner C, Lockhart N, Friedlander M, Hoen P, Monlong J, Gonzàlez-Porta M, Kurbatova N, Griebel T, Barann M, Wieland T, Greger L, van Iterson M, Almlof J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, Lizano E, Buermans H, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Flicek P, Strom T, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis S, Hasler R, Syvanen A, van Ommen G, Brazma A, Meitinger T, Rosenstiel P, Gut I, Estivill X. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 2015, 348: 666-669. PMID: 25954003, PMCID: PMC4537935, DOI: 10.1126/science.1261877.Peer-Reviewed Original ResearchConceptsGenotype-Tissue ExpressionGenetic variantsProtein-truncating variantsEffects of variantsDosage compensationClass of variantsTranscript decayGene functionTranscriptome dataHuman transcriptomeGenetic variationGEUVADIS projectGene inactivationSplice junctionsGenome interpretationTranscriptome effectsFunctional interpretationClinical genome interpretationFunctional effectsPositional effectsImproved predictive modelVariantsTranscriptomeProfound effectInactivation
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