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

The DOI matches its Crossref record; 55 of the 55 references it cites were found in a registry or an index.

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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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
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
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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