1. Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease
- Author
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Eric Haugen, Barbara Stranger, Roger Little, Shin Lin, Richard Sandstrom, Lindsay Rizzardi, Jemma Nelson, Rui Zhang, Fan Wu, Peter Hickey, Michael Snyder, Yaping Liu, Rajinder Kaul, David Davis, Daniel Rohrer, Stephen Montgomery, Kasper Hansen, and Joshua Akey
- Subjects
0301 basic medicine ,Molecular complexity ,Regulation of gene expression ,Genetics ,Genomics ,Disease ,Biology ,Phenotype ,03 medical and health sciences ,030104 developmental biology ,Genotype ,Gene expression ,Functional genomics - 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.
- Published
- 2017