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Nat Rev Genet. 2016 Mar;17(3):129-45. doi: 10.1038/nrg.2015.36. Epub 2016 Feb 15.

Unravelling the human genome-phenome relationship using phenome-wide association studies.

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Department of Epidemiology and Biostatistics, Institute for Computational Biology, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Cleveland, Ohio 44106, USA.
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.


Advances in genotyping technology have, over the past decade, enabled the focused search for common genetic variation associated with human diseases and traits. With the recently increased availability of detailed phenotypic data from electronic health records and epidemiological studies, the impact of one or more genetic variants on the phenome is starting to be characterized both in clinical and population-based settings using phenome-wide association studies (PheWAS). These studies reveal a number of challenges that will need to be overcome to unlock the full potential of PheWAS for the characterization of the complex human genome-phenome relationship.

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