Journal
SCIENCE
Volume 348, Issue 6235, Pages 648-660Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1262110
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Funding
- Common Fund of the Office of the Director, U.S. National Institutes of Health
- NCI
- NHGRI
- NHLBI
- NIDA
- NIMH
- NIA
- NIAID
- NINDS through NIH [HHSN261200800001E, 10XS170, 10XS171, 12ST1039, 10ST1035, HHSN268201000029C]
- European Research Council
- Swiss National Science Foundation
- Louis-Jeantet Foundation
- Wellcome Trust [098381]
- Clarendon Scholarship
- NDM Studentship
- Univ. of Oxford Green Templeton College Award
- NIH [R01 DA006227-17, R01 MH090941, R01 MH090951, R01 MH090937, R01 MH090936, R01 MH090948, R01 GM104371, R01AG046170, R01CA163772, U01AI111598-01]
- National Institute for Health Research [NF-SI-0611-10099] Funding Source: researchfish
- Division Of Mathematical Sciences
- Direct For Mathematical & Physical Scien [1310002] Funding Source: National Science Foundation
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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.
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