National Disease Research Interchange, Philadelphia, Pennsylvania, USA.
Nat Genet. 2013 Jun;45(6):580-5. doi: 10.1038/ng.2653.
Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
全基因组关联研究已经确定了数千个常见疾病的易感基因位点，但对于这些基因中的大多数，其导致疾病易感性的机制仍不清楚。大多数相关变异与蛋白质编码变化无关，这表明调节区域的多态性可能导致许多疾病表型。在这里，我们描述了 Genotype-Tissue Expression (GTEx) 项目，该项目将建立一个资源数据库和相关的组织库，供科学界研究遗传变异与人类组织中基因表达之间的关系。
