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Mining the ultimate phenome repository

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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Correspondence to Nigam H Shah.

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Shah, N. Mining the ultimate phenome repository. Nat Biotechnol 31, 1095–1097 (2013).

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