Effect of predicted protein-truncating genetic variants on the human transcriptome
Abstract
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.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- May 08, 2015
- Source ID
- 10.1126/science.1261877
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- Alexis Battle
- Alvis Brazma
- Amanda Brown
- Andrew B. Nobel
- Andrew Tikhonov
- Andrey A. Shablin
- Angela Britton
- Anita H. Undale
- Ann-christine Syvanen
- Anna M. Smith
- Anuar Konkashbaev
- Ayellet V. Segre
- Barbara A Foster
- Barnaby E. Robles
- Benjamin Iriarte
- Bernadette Mestichelli
- Bin Zhang
- Bryan M. Gillard
- Cameron D. Palmer
- Carlos D. Bustamante
- Carolyn Compton
- Casandra A. Trowbridge
- Chana A. Rabiner
- Charles Shive
- Chunrong Lu
- Dan L. Nicolae
- Dana R. Valley
- Daniel C. Rohrer
- Daniel G. Macarthur
- Daniela Esser
- Daphne Koller
- David N. Cooper
- David S. Deluca
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- Deborah C. Mash
- Deborah Colantuoni
- Debra Bradbury
- Denee Tidwell
- Donald F. Conrad
- Douglas M. Ruderfer
- Edmund Lo
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- Gen Li
- Gert-jan Van Ommen
- Greg E. Korzeniewski
- Hae Kyung Im
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- Heather Traino
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- Helena Kilpinen
- Henk P. J. Buermans
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- Ismael Padioleau
- Ivan Rusyn
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- Jakob Goldmann
- Jared Nedzel
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- Jean Monlong
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- Jeffrey A. Thomas
- Jialiang Yang
- Jimmie B. Vaught
- Jin Billy Li
- Joanne P. Demchok
- Joel Hirschhorn
- John Seleski
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- Johnelle Fleming
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- Jonathan K. Pritchard
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- Jun Liu
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- Kimberly M. Valentino
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- Laura K. Barker
- Leslie H. Sobin
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- Liqun Qi
- Luan Lin
- Lucas D. Ward
- Maarten Van Iterson
- Magboeba Mosavel
- Manolis Kellis
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- Mar Gonzàlez-porta
- Marc R. Friedlander
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- Broad Institute
- Cardiff University
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- Harvard Medical School
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