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Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease.

ABSTRACT: 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.

SUBMITTER: eGTEx Project

PROVIDER: S-EPMC6636856 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease.

Nature genetics 20171011 12

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 pr ...[more]

PMID: 29019975

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