Cited by 317Genomics and Rare DiseasesRNA Research and SplicingGenetic Associations and Epidemiology

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

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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, The GTEx Consortium, The Geuvadis Consortium, Bustamante, Carlos D., Li, Jin Billy, Daly, Mark J., Guigo, Roderic, Donnelly, Peter, Ardlie, Kristin, Sammeth, Michael, Dermitzakis, Emmanouil T., McCarthy, Mark I., Montgomery, Stephen B., Lappalainen, Tuuli, MacArthur, Daniel G., Segre, Ayellet V., Young, Taylor R., Gelfand, Ellen T., Trowbridge, Casandra A., Ward, Lucas D., Kheradpour, Pouya, Iriarte, Benjamin, Meng, Yan, Palmer, Cameron D., Esko, Tonu, Winckler, Wendy, Hirschhorn, Joel, Kellis, Manolis, Getz, Gad, Shablin, Andrey A., Li, Gen, Zhou, Yi-Hui, Nobel, Andrew B., Rusyn, Ivan, Wright, Fred A., Battle, Alexis, Mostafavi, Sara, Mele, Marta, Reverter, Ferran, Goldmann, Jakob, Koller, Daphne, Gamazon, Eric R., Im, Hae Kyung, Konkashbaev, Anuar, Nicolae, Dan L., Cox, Nancy J., Flutre, Timothe, Wen, Xiaoquan, Stephens, Matthew, Pritchard, Jonathan K., Tu, Zhidong, Zhang, Bin, Huang, Tao, Long, Quan, Lin, Luan, Yang, Jialiang, Zhu, Jun, Liu, Jun, Brown, Amanda, Mestichelli, Bernadette, Tidwell, Denee, Lo, Edmund, Salvatore, Mike, Shad, Saboor, Thomas, Jeffrey A., Lonsdale, John T., Choi, Roswell Christopher, Karasik, Ellen, Ramsey, Kimberly, Moser, Michael T., Foster, Barbara A., Gillard, Bryan M., Syron, John, Fleming, Johnelle, Magazine, Harold, Hasz, Rick, Walters, Gary D., Bridge, Jason P., Miklos, Mark, Sullivan, Susan, Barker, Laura K., Traino, Heather, Mosavel, Magboeba, Siminoff, Laura A., Valley, Dana R., Rohrer, Daniel C., Jewel, Scott, Branton, Philip, Sobin, Leslie H., Barcus, Mary, Qi, Liqun, Hariharan, Pushpa, Wu, Shenpei, Tabor, David, Shive, Charles, Smith, Anna M., Buia, Stephen A., Undale, Anita H., Robinson, Karna L., Roche, Nancy, Valentino, Kimberly M., Britton, Angela, Burges, Robin, Bradbury, Debra, Hambright, Kenneth W., Seleski, John, Korzeniewski, Greg E., Erickson, Kenyon, Marcus, Yvonne, Tejada, Jorge, Taherian, Mehran, Lu, Chunrong, Robles, Barnaby E., Basile, Margaret, Mash, Deborah C., Volpi, Simona, Struewing, Jeffery P., Temple, Gary F., Boyer, Joy, Colantuoni, Deborah, Little, Roger, Koester, Susan, Carithers, Latarsha J., Moore, Helen M., Guan, Ping, Compton, Carolyn, Sawyer, Sherilyn J., Demchok, Joanne P., Vaught, Jimmie B., Rabiner, Chana A., Lockhart, Nicole C., Friedlander, Marc R., ’t Hoen, Peter A. C., Monlong, Jean, Gonzàlez-Porta, Mar, Kurbatova, Natalja, Griebel, Thasso, Barann, Matthias, Wieland, Thomas, Greger, Liliana, van Iterson, Maarten, Almlof, Jonas, Ribeca, Paolo, Pulyakhina, Irina, Esser, Daniela, Giger, Thomas, Tikhonov, Andrew, Sultan, Marc, Bertier, Gabrielle, Lizano, Esther, Buermans, Henk P. J., Padioleau, Ismael, Schwarzmayr, Thomas, Karlberg, Olof, Ongen, Halit, Kilpinen, Helena, Beltran, Sergi, Gut, Marta, Kahlem, Katja, Amstislavskiy, Vyacheslav, Stegle, Oliver, Flicek, Paul, Strom, Tim M., Lehrach, Hans, Schreiber, Stefan, Sudbrak, Ralf, Carracedo, Angel, Antonarakis, Stylianos E., Hasler, Robert, Syvanen, Ann-Christine, van Ommen, Gert-Jan, Brazma, Alvis, Meitinger, Thomas, Rosenstiel, Philip, Gut, Ivo G., Estivill, Xavier·2015·Science

DOI 10.1126/science.1261877PMC PMC4537935

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Abstract

Expression, genetic variation, and tissues: Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this variation on the regulation of gene expression. Furthermore, only a few tissues have been examined per genetic variant. In order to examine how genetic expression varies among tissues within individuals, the Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative genetic traits that affect gene expression and determined which of these exhibit tissue-specific expression patterns. Melé et al. measured how transcription varies among tissues, and Rivas et al. looked at how truncated protein variants affect expression across tissues. Science , this issue p. 648 , p. 660 , p. 666 ; see also p. 640

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STAR: ultrafast universal RNA-seq aligner
Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., & Gingeras, T. R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts635 · Cited by 51,709
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Martin, M. (2011) · EMBnet.journal · doi:10.14806/ej.17.1.200 · Cited by 33,889
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
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pROC: an open-source package for R and S+ to analyze and compare ROC curves
Robin, X., Turck, N., Hainard, A., Tiberti, N., Lisacek, F., Sanchez, J.-C., & Müller, M. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-77 · Cited by 13,697
TopHat: discovering splice junctions with RNA-Seq
Trapnell, C., Pachter, L. S., & Salzberg, S. L. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp120 · Cited by 11,669
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,457
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Kuhn, M. (2008) · Journal of Statistical Software · doi:10.18637/jss.v028.i05 · Cited by 8,863
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Fast Lasso method for large-scale and ultrahigh-dimensional Cox model with applications to UK Biobank
Li, R., Chang, C. C., Justesen, J. M., Tanigawa, Y., Qian, J., Hastie, T. J., Rivas, M. A., & Tibshirani, R. J. (2020) · Biostatistics · doi:10.1093/biostatistics/kxaa038 · Cited by 39
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Martínez‐Picado, J., McLaren, P. J., Erkizia, I., Martin, M. P., Benet, S., Rotger, M., Dalmau, J., Ouchi, D., Wolinsky, S. M., Penugonda, S., et al. (2016) · Nature Communications · doi:10.1038/ncomms12412 · Cited by 42
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Zeng, B., Li, R., Hu, Y., Hu, B., Zhao, Q., Liu, H., Yuan, P., & Wang, Y. (2015) · Gene · doi:10.1016/j.gene.2015.10.021 · Cited by 14
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Authors: Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., Ferreira, P. G., Smith, K. S., Zhang, R., Zhao, F., Banks, E., Poplin, R., Ruderfer, D. M., Purcell, S. M., Tukiainen, T., Minikel, E. V., Stenson, P. D., Cooper, D. N., Huang, K. H., Sullivan, T. J., Nedzel, J., The GTEx Consortium, The Geuvadis Consortium, Bustamante, C. D., Li, J. B., Daly, M. J., Guigo, R., Donnelly, P., Ardlie, K., Sammeth, M., Dermitzakis, E. T., McCarthy, M. I., Montgomery, S. B., Lappalainen, T., MacArthur, D. G., Segre, A. V., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Ward, L. D., Kheradpour, P., Iriarte, B., Meng, Y., Palmer, C. D., Esko, T., Winckler, W., Hirschhorn, J., Kellis, M., Getz, G., Shablin, A. A., Li, G., Zhou, Y.-H., Nobel, A. B., Rusyn, I., Wright, F. A., Battle, A., Mostafavi, S., Mele, M., Reverter, F., Goldmann, J., Koller, D., Gamazon, E. R., Im, H. K., Konkashbaev, A., Nicolae, D. L., Cox, N. J., Flutre, T., Wen, X., Stephens, M., Pritchard, J. K., 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. A., Lonsdale, J. T., Choi, R. C., Karasik, E., Ramsey, K., Moser, M. T., Foster, B. A., Gillard, B. M., Syron, J., Fleming, J., Magazine, H., Hasz, R., Walters, G. D., Bridge, J. P., Miklos, M., Sullivan, S., Barker, L. K., Traino, H., Mosavel, M., Siminoff, L. A., Valley, D. R., Rohrer, D. C., Jewel, S., Branton, P., Sobin, L. H., Barcus, M., Qi, L., Hariharan, P., Wu, S., Tabor, D., Shive, C., Smith, A. M., Buia, S. A., Undale, A. H., Robinson, K. L., Roche, N., Valentino, K. M., Britton, A., Burges, R., Bradbury, D., Hambright, K. W., Seleski, J., Korzeniewski, G. E., Erickson, K., Marcus, Y., Tejada, J., Taherian, M., Lu, C., Robles, B. E., Basile, M., Mash, D. C., Volpi, S., Struewing, J. P., Temple, G. F., Boyer, J., Colantuoni, D., Little, R., Koester, S., Carithers, L. J., Moore, H. M., Guan, P., Compton, C., Sawyer, S. J., Demchok, J. P., Vaught, J. B., Rabiner, C. A., Lockhart, N. C., Friedlander, M. R., ’t Hoen, P. A. C., 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. P. J., Padioleau, I., Schwarzmayr, T., Karlberg, O., Ongen, H., Kilpinen, H., Beltran, S., Gut, M., Kahlem, K., Amstislavskiy, V., Stegle, O., Flicek, P., Strom, T. M., Lehrach, H., Schreiber, S., Sudbrak, R., Carracedo, A., Antonarakis, S. E., Hasler, R., Syvanen, A.-C., van Ommen, G.-J., Brazma, A., Meitinger, T., Rosenstiel, P., Gut, I. G., & Estivill, X.
Affiliations: Centre for Human Genetics (GB)
University of Helsinki (FI)
Washington University in St. Louis (US)
Broad Institute (US)
Stanford Medicine (US)
University of Geneva (CH)
Stanford University (US)
Mount Sinai Hospital (US)
Cardiff University (GB)
Center for Genomic Regulation (CRG), Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain.
Universitat Pompeu Fabra (ES)
Corresponding author: Rivas, Manuel A.
Pirinen, Matti
Conrad, Donald F.
Lek, Monkol
Lappalainen, Tuuli
MacArthur, Daniel G.
ORCID: Rivas, Manuel A.
Pirinen, Matti
Conrad, Donald F.
Lek, Monkol
Tsang, Emily K.
Karczewski, Konrad J.
Maller, Julian B.
DeLuca, David S.
Fromer, Menachem
Ferreira, Pedro G.
Smith, Kevin S.
Zhang, Rui
Zhao, Fengmei
Banks, Eric
Ruderfer, Douglas M.
Purcell, Shaun M.
Tukiainen, Taru
Minikel, Eric V.
Cooper, David N.
Nedzel, Jared
Bustamante, Carlos D.
Li, Jin Billy
Daly, Mark J.
Donnelly, Peter
Ardlie, Kristin
Sammeth, Michael
Dermitzakis, Emmanouil T.
McCarthy, Mark I.
Montgomery, Stephen B.
Lappalainen, Tuuli
MacArthur, Daniel G.
Young, Taylor R.
Ward, Lucas D.
Meng, Yan
Palmer, Cameron D.
Winckler, Wendy
Hirschhorn, Joel
Kellis, Manolis
Getz, Gad
Li, Gen
Zhou, Yi-Hui
Nobel, Andrew B.
Rusyn, Ivan
Wright, Fred A.
Battle, Alexis
Mostafavi, Sara
Goldmann, Jakob
Koller, Daphne
Gamazon, Eric R.
Im, Hae Kyung
Konkashbaev, Anuar
Nicolae, Dan L.
Cox, Nancy J.
Wen, Xiaoquan
Stephens, Matthew
Pritchard, Jonathan K.
Tu, Zhidong
Huang, Tao
Long, Quan
Lin, Luan
Yang, Jialiang
Zhu, Jun
Moser, Michael T.
Foster, Barbara A.
Gillard, Bryan M.
Siminoff, Laura A.
Rohrer, Daniel C.
Branton, Philip
Tabor, David
Lu, Chunrong
Mash, Deborah C.
Volpi, Simona
Struewing, Jeffery P.
Moore, Helen M.
Guan, Ping
Compton, Carolyn
Sawyer, Sherilyn J.
Monlong, Jean
Gonzàlez-Porta, Mar
Kurbatova, Natalja
Griebel, Thasso
Barann, Matthias
Wieland, Thomas
Greger, Liliana
Ribeca, Paolo
Sultan, Marc
Bertier, Gabrielle
Lizano, Esther
Ongen, Halit
Kilpinen, Helena
Amstislavskiy, Vyacheslav
Stegle, Oliver
Flicek, Paul
Schreiber, Stefan
Sudbrak, Ralf
Antonarakis, Stylianos E.
Meitinger, Thomas
Rosenstiel, Philip
Gut, Ivo G.
Estivill, Xavier
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2015-05-08
Volume: 348
Issue: 6235
Pages: 666-669
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1261877
PMC: PMC4537935
OpenAlex: W1843990841
Cited by: 313
References: 55
Citations by year: 2026: 15 · 2025: 24 · 2024: 28 · 2023: 36 · 2022: 25 · 2021: 34 · 2020: 25 · 2019: 23 · 2018: 24 · 2017: 30 · 2016: 33 · 2015: 16
FWCI: 23.60
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.sciencemag.org/about/science-licenses-journal-article-reuse (vor, 366 d)
Locations: Science (publishedVersion)
PubMed (publishedVersion)
Archive ouverte UNIGE (University of Geneva) (publishedVersion)
PubMed Central (acceptedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Leiden Repository (Leiden University) (submittedVersion)
UCL Discovery (University College London) (submittedVersion)
ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
Funders: National Institutes of Health (NIGMS R01GM104371, NIMH R01MH101814, R01MH090941, U01HG007593, R01MH101810)
United States Department of Defense
Wellcome Trust (095552/Z/11/Z, 090532/Z/09/Z, 98381)
European Research Council
Natural Science and Engineering Research Council of Canada
University of Oxford
Louis-Jeantet Foundation
Swiss National Science Foundation
Academy of Finland (257654)
Clarendon Scholarship
NDM Studentship
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: truncating mutations, nonsense mutation, variant effect prediction, transcriptome, splice junctions, tissue-specific effects, position effect, dosage compensation, GTEx, GEUVADIS
MeSH terms: Gene Expression Regulation, Heterozygote, Humans, Phenotype, Proteins, Genetic Variation, Genome, Human, Alternative Splicing, Gene Silencing, Gene Expression Profiling, Nonsense Mediated mRNA Decay, Transcriptome

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