@article{d0b9ad2c4777482bad59f73370237fa0,
title = "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. We directly measured the effect of variants both proximal and distal to splice junctions. Furthermore, we found that robustness to heterozygous gene inactivation is not due to dosage compensation. Our results illustrate the value of transcriptome data in the functional interpretation of genetic variants.",
author = "{GTEx Consortium} and {Geuvadis Consortium} and Rivas, {Manuel A.} and Matti Pirinen and Conrad, {Donald F.} and Monkol Lek and Tsang, {Emily K.} and Karczewski, {Konrad J.} and Maller, {Julian B.} and Kukurba, {Kimberly R.} and DeLuca, {David S.} and Menachem Fromer and Ferreira, {Pedro G.} and Smith, {Kevin S.} and Rui Zhang and Fengmei Zhao and Eric Banks and Ryan Poplin and Ruderfer, {Douglas M.} and Purcell, {Shaun M.} and Taru Tukiainen and Minikel, {Eric V.} and Stenson, {Peter D.} and Cooper, {David N.} and Huang, {Katharine H.} and Sullivan, {Timothy J.} and Jared Nedzel and Bustamante, {Carlos D.} and Li, {Jin Billy} and Daly, {Mark J.} and Roderic Guigo and Peter Donnelly and Kristin Ardlie and Michael Sammeth and Dermitzakis, {Emmanouil T.} and McCarthy, {Mark I.} and Montgomery, {Stephen B.} and Tuuli Lappalainen and MacArthur, {Daniel G.}",
note = "Publisher Copyright: {\textcopyright} 2015, American Association for the Advancement of Science. All rights reserved.",
year = "2015",
month = may,
day = "8",
doi = "10.1126/science.1261877",
language = "English (US)",
volume = "348",
pages = "666--669",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "6235",
}