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

• Type: Article in International Scientific Journal
• Date: 2015

Authors

Ardlie, KG (Author) Other; DeLuca, DS (Author) Other; Segrè, AV (Author) Other; Sullivan, TJ (Author) Other; Young, TR (Author) Other; Gelfand, ET (Author) Other; Trowbridge, CA (Author) Other; Maller, JB (Author) Other; Tukiainen, T (Author) Other; Lek, M (Author) Other; Ward, LD (Author) Other; Kheradpour, P (Author) Other; Iriarte, B (Author) Other; Meng, Y (Author) Other; Palmer, CD (Author) Other; Esko, T (Author) Other; Winckler, W (Author) Other; Hirschhorn, JN (Author) Other; Kellis, M (Author) Other; MacArthur, DG (Author) Other; Getz, G (Author) Other; Shabalin, AA (Author) Other; Li, G (Author) Other; Zhou, YH (Author) Other; Nobel, AB (Author) Other; Rusyn, I (Author) Other; Wright, FA (Author) Other; Lappalainen, T (Author) Other; Ferreira, PG (Author) Other; Ongen, H (Author) Other; Rivas, MA (Author) Other; Battle, A (Author) Other; Mostafavi, S (Author) Other; Monlong, J (Author) Other; Sammeth, M (Author) Other; Melé, M (Author) Other; Reverter, F (Author) Other; Goldmann, JM (Author) Other; Koller, D (Author) Other; Guigó, R (Author) Other; McCarthy, MI (Author) Other; Dermitzakis, ET (Author) Other; Gamazon, ER (Author) Other; Im, HK (Author) Other; Konkashbaev, A (Author) Other; Nicolae, DL (Author) Other; Cox, NJ (Author) Other; Flutre, T (Author) Other; Wen, X (Author) Other; Stephens, M (Author) Other; Pritchard, JK (Author) Other; Tu, Z (Author) Other; Zhang, B (Author) Other; Huang, T (Author) Other; Long, Q (Author) Other; Lin, L (Author) Other; Yang, J (Author) Other; Zhu, J (Author) Other; Liu, J (Author) Other; Brown, A (Author) Other; Mestichelli, B (Author) Other; Tidwell, D (Author) Other; Lo, E (Author) Other; Salvatore, M (Author) Other; Shad, S (Author) Other; Thomas, JA (Author) Other; Lonsdale, JT (Author) Other; Moser, MT (Author) Other; Gillard, BM (Author) Other; Karasik, E (Author) Other; Ramsey, K (Author) Other; Choi, C (Author) Other; Foster, BA (Author) Other; Syron, J (Author) Other; Fleming, J (Author) Other; Magazine, H (Author) Other; Hasz, R (Author) Other; Walters, GD (Author) Other; Bridge, JP (Author) Other; Miklos, M (Author) Other; Sullivan, S (Author) Other; Barker, LK (Author) Other; Traino, HM (Author) Other; Mosavel, M (Author) Other; Siminoff, LA (Author) Other; Valley, DR (Author) Other; Rohrer, DC (Author) Other; Jewell, SD (Author) Other; Branton, PA (Author) Other; Sobin, LH (Author) Other; Barcus, M (Author) Other; Qi, L (Author) Other; McLean, J (Author) Other; Hariharan, P (Author) Other; Um, KS (Author) Other; Wu, S (Author) Other; Tabor, D (Author) Other; Shive, C (Author) Other; Smith, AM (Author) Other; Buia, SA (Author) Other; Undale, AH (Author) Other; Robinson, KL (Author) Other; Roche, N (Author) Other; Valentino, KM (Author) Other; Britton, A (Author) Other; Burges, R (Author) Other; Bradbury, D (Author) Other; Hambright, KW (Author) Other; Seleski, J (Author) Other; Korzeniewski, GE (Author) Other; Erickson, K (Author) Other; Marcus, Y (Author) Other; Tejada, J (Author) Other; Taherian, M (Author) Other; Lu, C (Author) Other; Basile, M (Author) Other; Mash, DC (Author) Other; Volpi, S (Author) Other; Struewing, JP (Author) Other; Temple, GF (Author) Other; Boyer, J (Author) Other; Colantuoni, D (Author) Other; Little, R (Author) Other; Koester, S (Author) Other; Carithers, LJ (Author) Other; Moore, HM (Author) Other; Guan, P (Author) Other; Compton, C (Author) Other; Sawyer, SJ (Author) Other; Demchok, JP (Author) Other; Vaught, JB (Author) Other; Rabiner, CA (Author) Other; Lockhart, (Author) Other

Journal

Title: Science

Vol. 348

Pages: 648-660

ISSN: 0036-8075

Publisher: American Association for the Advancement of Science

Indexing

Scopus - 2696 Citations

Scientific classification

CORDIS: Natural sciences > Biological sciences > Biology > Computational biology

FOS: Natural sciences > Biological sciences ; Natural sciences > Computer and information sciences

Other information

Authenticus ID: P-00Q-55A

DOI: 10.1126/science.1262110

Abstract (EN): Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of the pilot phase of the Genotype-Tissue Expression (GTEx) project. We describe the landscape of gene expression across tissues, catalog thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants, describe complex network relationships, and identify signals from genome-wide association studies explained by eQTLs. These findings provide a systematic understanding of the cellular and biological consequences of human genetic variation and of the heterogeneity of such effects among a diverse set of human tissues.

Language: English

Type (Professor's evaluation): Scientific