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Disease genetics

Harnessing electronic medical records

Nature Reviews Genetics volume 12, page 807 (2011)Cite this article

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Using electronic medical records (EMRs) as a source of phenotypic information is a potentially cost-effective way of identifying disease-associated genetic variants. These authors developed an algorithm to identify cases and controls from the EMRs of different institutions and applied this to a genome-wide association study for hypothyroidism. They identified significant associations with variants in forkhead box E1 (FOXE1). A phenome-wide association study also identified other conditions associated with the same locus.

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ORIGINAL RESEARCH PAPER

  1. Denny, J. C. et al. Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am. J. Hum. Genet. 89, 529–542 (2011)

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  1. Louisa Flintoft
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Flintoft, L. Harnessing electronic medical records. Nat Rev Genet 12, 807 (2011). https://doi.org/10.1038/nrg3127

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