Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
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DOI：
10.1126/science.1262110
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发表时间：
2015-05-08
期刊：
影响因子：
--
通讯作者：
GTEx Consortium
中科院分区：
文献类型：
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作者：
GTEx Consortium
了解遗传变异的功能后果，以及它如何影响复杂的人类疾病和数量性状，仍然是生物医学的一个关键挑战。我们对来自175名个体的43种组织的1641个样本的RNA测序数据进行了分析，这些数据是作为基因型组织表达（GTEx）项目的试点阶段的一部分生成的。我们描述了跨组织的基因表达景观，目录数以千计的组织特异性和共享的调控表达数量性状位点（eQTL）的变体，描述复杂的网络关系，并确定从全基因组关联研究的信号解释的eQTL。这些发现提供了一个系统的理解人类遗传变异的细胞和生物学后果，以及在不同的人体组织之间的异质性，这种影响。
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.