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Dokumenttyp:
journal article 
Autor(en):
Rivas, Manuel A; Pirinen, Matti; Conrad, Donald F; Lek, Monkol; Tsang, Emily K; Karczewski, Konrad J; Maller, Julian B; Kukurba, Kimberly R; DeLuca, David S; Fromer, Menachem; Ferreira, Pedro G; Smith, Kevin S; Zhang, Rui; Zhao, Fengmei; Banks, Eric; Poplin, Ryan; Ruderfer, Douglas M; Purcell, Shaun M; Tukiainen, Taru; Minikel, Eric V; Stenson, Peter D; Cooper, David N; Huang, Katharine H; Sullivan, Timothy J; Nedzel, Jared; GTEx Consortium; Geuvadis Consortium; Bustamante, Carlos D; Li, Jin Bil...    »
 
Titel:
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. 
Abstract:
Accurate prediction of the functional effect of genetic variation is critical for clinical genome interpretation. We systematically characterized the transcriptome effects of protein-truncating variants, a class of variants expected to have profound effects on gene function, using data from the Genotype-Tissue Expression (GTEx) and Geuvadis projects. We quantitated tissue-specific and positional effects on nonsense-mediated transcript decay and present an improved predictive model for this decay...    »
 
Zeitschriftentitel:
Science 
Jahr:
2015 
Band / Volume:
348 
Heft / Issue:
6235 
Seitenangaben Beitrag:
666-9 
Sprache:
eng 
Print-ISSN:
0036-8075 
TUM Einrichtung:
Institut für Humangenetik