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Disponibilidad
Institución detectada Período Navegá Descargá Solicitá
No detectada desde mar. 1997 / hasta dic. 2023 Science Journals

Información

Tipo de recurso:

revistas

ISSN impreso

0036-8075

ISSN electrónico

1095-9203

Editor responsable

American Association for the Advancement of Science (AAAS)

País de edición

Estados Unidos

Fecha de publicación

Cobertura temática

Tabla de contenidos

Editors' Choice

Kristen L. Mueller; Guy Riddihough; Valda Vinson; Jake Yeston; Julia Fahrenkamp-Uppenbrink; Jelena Stajic; Monika S. Magon

Palabras clave: Multidisciplinary.

Pp. 645-646

Tilting the field to expose a fraction

J. Stajic

Palabras clave: Multidisciplinary.

Pp. 645-646

Sleeping while awake

M. S. Magon

Palabras clave: Multidisciplinary.

Pp. 645-646

Thirty new fly species in Los Angeles

J. Fahrenkamp-Uppenbrink

Palabras clave: Multidisciplinary.

Pp. 645-646

Proteins take steps to bind larger ligands

V. Vinson

Palabras clave: Multidisciplinary.

Pp. 645-646

Round and round with a precious catalyst

J. Yeston

Palabras clave: Multidisciplinary.

Pp. 645-646

Methyl-C binding may explain Rett late onset

G. Riddihough

Palabras clave: Multidisciplinary.

Pp. 645-646

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

; Kristin G. Ardlie; David S. Deluca; Ayellet V. Segrè; Timothy J. Sullivan; Taylor R. Young; Ellen T. Gelfand; Casandra A. Trowbridge; Julian B. Maller; Taru Tukiainen; Monkol Lek; Lucas D. Ward; Pouya Kheradpour; Benjamin Iriarte; Yan Meng; Cameron D. Palmer; Tõnu Esko; Wendy Winckler; Joel N. Hirschhorn; Manolis Kellis; Daniel G. MacArthur; Gad Getz; Andrey A. Shabalin; Gen Li; Yi-Hui Zhou; Andrew B. Nobel; Ivan Rusyn; Fred A. Wright; Tuuli Lappalainen; Pedro G. Ferreira; Halit Ongen; Manuel A. Rivas; Alexis Battle; Sara Mostafavi; Jean Monlong; Michael Sammeth; Marta Mele; Ferran Reverter; Jakob M. Goldmann; Daphne Koller; Roderic Guigó; Mark I. McCarthy; Emmanouil T. Dermitzakis; Eric R. Gamazon; Hae Kyung Im; Anuar Konkashbaev; Dan L. Nicolae; Nancy J. Cox; Timothée Flutre; Xiaoquan Wen; Matthew Stephens; Jonathan K. Pritchard; Zhidong Tu; Bin Zhang; Tao Huang; Quan Long; Luan Lin; Jialiang Yang; Jun Zhu; Jun Liu; Amanda Brown; Bernadette Mestichelli; Denee Tidwell; Edmund Lo; Mike Salvatore; Saboor Shad; Jeffrey A. Thomas; John T. Lonsdale; Michael T. Moser; Bryan M. Gillard; Ellen Karasik; Kimberly Ramsey; Christopher Choi; Barbara A. Foster; John Syron; Johnell Fleming; Harold Magazine; Rick Hasz; Gary D. Walters; Jason P. Bridge; Mark Miklos; Susan Sullivan; Laura K. Barker; Heather M. Traino; Maghboeba Mosavel; Laura A. Siminoff; Dana R. Valley; Daniel C. Rohrer; Scott D. Jewell; Philip A. Branton; Leslie H. Sobin; Mary Barcus; Liqun Qi; Jeffrey McLean; Pushpa Hariharan; Ki Sung Um; Shenpei Wu; David Tabor; Charles Shive; Anna M. Smith; Stephen A. Buia; Anita H. Undale; Karna L. Robinson; Nancy Roche; Kimberly M. Valentino; Angela Britton; Robin Burges; Debra Bradbury; Kenneth W. Hambright; John Seleski; Greg E. Korzeniewski; Kenyon Erickson; Yvonne Marcus; Jorge Tejada; Mehran Taherian; Chunrong Lu; Margaret Basile; Deborah C. Mash; Simona Volpi; Jeffery P. Struewing; Gary F. Temple; Joy Boyer; Deborah Colantuoni; Roger Little; Susan Koester; Latarsha J. Carithers; Helen M. Moore; Ping Guan; Carolyn Compton; Sherilyn J. Sawyer; Joanne P. Demchok; Jimmie B. Vaught; Chana A. Rabiner; Nicole C. Lockhart; Kristin G. Ardlie; Gad Getz; Fred A. Wright; Manolis Kellis; Simona Volpi; Emmanouil T. Dermitzakis

<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>

Palabras clave: Multidisciplinary.

Pp. 648-660

The human transcriptome across tissues and individuals

Marta Melé; Pedro G. Ferreira; Ferran Reverter; David S. DeLuca; Jean Monlong; Michael Sammeth; Taylor R. Young; Jakob M Goldmann; Dmitri D. Pervouchine; Timothy J. Sullivan; Rory Johnson; Ayellet V. Segrè; Sarah Djebali; Anastasia Niarchou; The GTEx Consortium; Fred A. Wright; Tuuli Lappalainen; Miquel Calvo; Gad Getz; Emmanouil T. Dermitzakis; Kristin G. Ardlie; Roderic Guigó

<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>

Palabras clave: Multidisciplinary.

Pp. 660-665

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

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

<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>

Palabras clave: Multidisciplinary.

Pp. 666-669