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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

Contributeurs/tricesGTEx Consortium
Collaborateurs/tricesDermitzakis, Emmanouil
Publié dansScience, vol. 348, no. 6235, p. 648-660
Date de publication2015
Résumé

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.

Mots-clés
  • Alleles
  • Blood Pressure/genetics
  • Disease/genetics
  • GTPase-Activating Proteins/genetics
  • Gene Expression Regulation
  • Gene Regulatory Networks
  • Genetic Variation
  • Genome, Human/genetics
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Multigene Family
  • Organ Specificity/genetics
  • Pilot Projects
  • Quantitative Trait Loci
  • RNA Splicing
  • RNA, Untranslated/genetics
  • Sequence Analysis, RNA
  • Tibial Arteries/metabolism
  • Transcriptome
Citation (format ISO)
GTEx Consortium. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. In: Science, 2015, vol. 348, n° 6235, p. 648–660. doi: 10.1126/science.1262110
Identifiants
ISSN du journal0036-8075
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Informations techniques

Création23/11/2016 15:00:00
Première validation23/11/2016 15:00:00
Heure de mise à jour15/03/2023 01:09:14
Changement de statut15/03/2023 01:09:14
Dernière indexation16/01/2024 22:43:30
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