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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.;
[...]
Effect of predicted protein-truncating genetic variants on the human transcriptome
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- Medientyp: E-Artikel
- Titel: Effect of predicted protein-truncating genetic variants on the human transcriptome
- Beteiligte: 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.; [...]
- Erschienen: American Association for the Advancement of Science (AAAS), 2015
- Erschienen in: Science
- Sprache: Englisch
- DOI: 10.1126/science.1261877
- ISSN: 0036-8075; 1095-9203
- Schlagwörter: Multidisciplinary
- Entstehung:
- Anmerkungen:
- Beschreibung: <jats:title>Expression, genetic variation, and tissues</jats:title> <jats:p> 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 <jats:italic>et al.</jats:italic> measured how transcription varies among tissues, and Rivas <jats:italic>et al.</jats:italic> looked at how truncated protein variants affect expression across tissues. </jats:p> <jats:p> <jats:italic>Science</jats:italic> , this issue p. <jats:related-article xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="doi" issue="6235" page="648" related-article-type="in-this-issue" vol="348" xlink:href="10.1126/science.1262110">648</jats:related-article> , p. <jats:related-article xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="doi" issue="6235" page="660" related-article-type="in-this-issue" vol="348" xlink:href="10.1126/science.aaa0355">660</jats:related-article> , p. <jats:related-article xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="doi" issue="6235" page="666" related-article-type="in-this-issue" vol="348" xlink:href="10.1126/science.1261877">666</jats:related-article> ; see also p. <jats:related-article xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="doi" issue="6235" page="640" related-article-type="in-this-issue" vol="348" xlink:href="10.1126/science.aab3002">640</jats:related-article> </jats:p>