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Mining the ultimate phenome repository

Nature Biotechnology volume 31, pages 1095–1097 (2013)Cite this article

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Combining genotyping and the data locked in medical records yields a large number of known genotype-phenotype associations.

The phenome-wide association study (PheWAS) is a relatively new approach for exploring the influence of genetic variation on disease etiology. First described by Denny et al.1 in 2010, PheWAS involves searching for associations between genetic variants and a wide spectrum of disease phenotypes, typically captured in electronic medical records or epidemiologic studies. But how reliable are the resulting associations? In a report in this issue, Denny et al.2 sought to validate PheWAS by comparing the associations it discovers to those identified by genome-wide association studies (GWAS). Notably, they find that a single PheWAS replicates 66% of the associations produced by multiple GWAS studies that were sufficiently powered. Moreover, PheWAS reveals new and potentially pleiotropic associations that could not have been readily identified by GWAS.

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Figure 1: Approaches for deriving associations between genetic variants and disease phenotypes.

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  1. Nigam H. Shah is at the Center for Biomedical Informatics Research, Stanford, California, USA.,

    Nigam H Shah

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  1. Nigam H Shah
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Correspondence to Nigam H Shah.

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Shah, N. Mining the ultimate phenome repository. Nat Biotechnol 31, 1095–1097 (2013). https://doi.org/10.1038/nbt.2757

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