Nat Genet. 2017 Dec;49(12):1664-1670. doi: 10.1038/ng.3969. Epub 2017 Oct 11.
Genetic variants have been associated with myriad molecular phenotypes that provide new insight into the range of mechanisms underlying genetic traits and diseases. Identifying any particular genetic variant's cascade of effects, from molecule to individual, requires assaying multiple layers of molecular complexity. We introduce the Enhancing GTEx (eGTEx) project that extends the GTEx project to combine gene expression with additional intermediate molecular measurements on the same tissues to provide a resource for studying how genetic differences cascade through molecular phenotypes to impact human health.
基因变异已与无数分子表型相关联，这些分子表型为深入了解遗传特征和疾病背后的机制范围提供了新的视角。确定任何特定基因变异从分子到个体的一系列影响，需要对分子复杂性的多个层面进行测定。我们推出了增强基因型-组织表达（eGTEx）项目，该项目扩展了基因型-组织表达（GTEx）项目，将基因表达与对相同组织进行的其他中间分子测量相结合，以提供一个资源，用于研究遗传差异如何通过分子表型级联影响人类健康。
