作者
GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel Stephane E. 5 6 Davis Joe R. 7 8 He Yuan 9 Jo Brian 10 Mohammadi Pejman 5 6 Park YoSon 11 Parsana Princy 12 Segrè Ayellet V. 1 Strober Benjamin J. 9 Zappala Zachary 7 8, NIH program management: Addington Anjene 15 Guan Ping 16 Koester Susan 15 Little A. Roger 17 Lockhart Nicole C. 18 Moore Helen M. 16 Rao Abhi 16 Struewing Jeffery P. 19 Volpi Simona 19, Pathology: Sobin Leslie 30 Barcus Mary E. 30 Branton Philip A. 16, NIH Common Fund Nierras Concepcion R. 137, NIH/NCI Branton Philip A. 138 Carithers Latarsha J. 138 139 Guan Ping 138 Moore Helen M. 138 Rao Abhi 138 Vaught Jimmie B. 138, NIH/NHGRI Gould Sarah E. 140 Lockart Nicole C. 140 Martin Casey 140 Struewing Jeffery P. 140 Volpi Simona 140, NIH/NIMH Addington Anjene M. 141 Koester Susan E. 141, NIH/NIDA Little A. Roger 142, Biospecimen Collection Source Site—RPCI Bridge Jason 149 Foster Barbara A. 150 Gillard Bryan M. 150 Karasik Ellen 150 Kumar Rachna 150 Miklos Mark 149 Moser Michael T. 150, Biospecimen Core Resource—VARI Jewell Scott D. 151 Montroy Robert G. 151 Rohrer Daniel C. 151 Valley Dana R. 151, Brain Bank Repository—University of Miami Brain Endowment Bank Davis David A. 152 Mash Deborah C. 152, ELSI Study Barker Laura K. 156 Mosavel Maghboeba 157 Siminoff Laura A. 156 Traino Heather M. 156, Genome Browser Data Integration & Visualization—EBI Flicek Paul 158 Juettemann Thomas 158 Ruffier Magali 158 Sheppard Dan 158 Taylor Kieron 158 Trevanion Stephen J. 158 Zerbino Daniel R. 158
发表日期
2017/10/12
期刊
Nature
卷号
550
期号
7675
页码范围
204-213
出版商
Nature Publishing Group UK
简介
Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to …
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GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017