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. 2017 Dec;49(12):1664-1670.
doi: 10.1038/ng.3969. Epub 2017 Oct 11.

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

eGTEx Project
Collaborators

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

eGTEx Project. Nat Genet. 2017 Dec.

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.

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Conflict of interest statement

Competing Financial Interests Statement

MS is a cofounder of Personalis and Q bio and on the scientific advisory board of Personalis, Epinomics and Genapsys.

Figures

Figure 1
Figure 1. Quantifying layers of molecular and cellular phenotypes.
The eGTEx Project plans to study telomere length, DNA accessibility, histone modifications, DNA and RNA methylation, somatic mutation, allele-specific expression, and protein quantification across individuals and tissues.
See this image and copyright information in PMC

Comment in

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