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Mining the ultimate phenome repository

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

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

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Authors and Affiliations

  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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The author declares no competing financial interests.

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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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