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Title | Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. |
Publication Type | Journal Article |
Year of Publication | 2013 |
Authors | 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 RLynn, 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 |
Journal | PLoS One |
Volume | 8 |
Issue | 6 |
Pagination | e63481 |
Date Published | 2013 |
ISSN | 1932-6203 |
Keywords | Aged, Biomarkers, Case-Control Studies, Chi-Square Distribution, Computer Simulation, Dementia, Electronic Health Records, Genome-Wide Association Study, Genomics, Humans, Models, Statistical, Phenotype, Polymorphism, Single Nucleotide, Risk Factors |
Abstract | 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. |
DOI | 10.1371/journal.pone.0063481 |
Alternate Journal | PLoS ONE |
PubMed ID | 23762230 |
PubMed Central ID | PMC3677889 |
Grant List | U01HG004438 / HG / NHGRI NIH HHS / United States U01 HG006375 / HG / NHGRI NIH HHS / United States U01 AG016976 / AG / NIA NIH HHS / United States U01 AG006781 / AG / NIA NIH HHS / United States AG06781 / AG / NIA NIH HHS / United States U01 HG006378 / HG / NHGRI NIH HHS / United States HG004610 / HG / NHGRI NIH HHS / United States |