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

CollaborationWith : Dermitzakis, Emmanouil
Published in Science. 2015, vol. 348, no. 6235, p. 648-660
Abstract 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.
Keywords AllelesBlood Pressure/geneticsDisease/geneticsGTPase-Activating Proteins/geneticsGene Expression RegulationGene Regulatory NetworksGenetic VariationGenome, Human/geneticsGenome-Wide Association StudyGenotypeHumansMultigene FamilyOrgan Specificity/geneticsPilot ProjectsQuantitative Trait LociRNA SplicingRNA, Untranslated/geneticsSequence Analysis, RNATibial Arteries/metabolismTranscriptome
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PMID: 25954001
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Research group Population Genomics and Genetics of Complex Traits (892)
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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. https://archive-ouverte.unige.ch/unige:90258

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Deposited on : 2016-12-13

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