Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records.

McDavid A, Crane PK, Newton KM, Crosslin DR, McCormick W, Weston N, Ehrlich K, Hart E, Harrison R, Kukull WA, Rottscheit C, Peissig P, Stefanski E, McCarty CA, Zuvich RL, Ritchie MD, Haines JL, Denny JC, Schellenberg GD, de Andrade M, Kullo I, Li R, Mirel D, Crenshaw A, Bowen JD, Li G, Tsuang D, McCurry S, Teri L, Larson EB, Jarvik GP, Carlson CS
PLoS One. 2013 8 (6): e63481

PMID: 23762230 · PMCID: PMC3677889 · DOI:10.1371/journal.pone.0063481

The feasibility of using imperfectly phenotyped "silver standard" samples identified from electronic medical record diagnoses is considered in genetic association studies when these samples might be combined with an existing set of samples phenotyped with a gold standard technique. An analytic expression is derived for the power of a chi-square test of independence using either research-quality case/control samples alone, or augmented with silver standard data. The subset of the parameter space where inclusion of silver standard samples increases statistical power is identified. A case study of dementia subjects identified from electronic medical records from the Electronic Medical Records and Genomics (eMERGE) network, combined with subjects from two studies specifically targeting dementia, verifies these results.

MeSH Terms (15)

Aged Biomarkers Case-Control Studies Chi-Square Distribution Computer Simulation Dementia Electronic Health Records Genome-Wide Association Study Genomics Genomics Humans Models, Statistical Phenotype Polymorphism, Single Nucleotide Risk Factors

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