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

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 anal...

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Bibliographic Details
Published in:PloS one 2013-06, Vol.8 (6), p.e63481-e63481
Main Authors: McDavid, Andrew, Crane, Paul K, Newton, Katherine M, Crosslin, David R, McCormick, Wayne, Weston, Noah, Ehrlich, Kelly, Hart, Eugene, Harrison, Robert, Kukull, Walter A, Rottscheit, Carla, Peissig, Peggy, Stefanski, Elisha, McCarty, Catherine A, Zuvich, Rebecca Lynn, Ritchie, Marylyn D, Haines, Jonathan L, Denny, Joshua C, Schellenberg, Gerard D, de Andrade, Mariza, Kullo, Iftikhar, Li, Rongling, Mirel, Daniel, Crenshaw, Andrew, Bowen, James D, Li, Ge, Tsuang, Debby, McCurry, Susan, Teri, Linda, Larson, Eric B, Jarvik, Gail P, Carlson, Chris S
Format: Article
Language:English
Subjects:
Aged
Biology
Biomarkers - metabolism
Case-Control Studies
Chi-Square Distribution
Chi-square test
Computer Simulation
Dementia
Dementia - epidemiology
Dementia - genetics
Dementia disorders
Electronic health records
Electronic Health Records - statistics & numerical data
Electronic medical records
Electronic records
Feasibility studies
Genetic research
Genome-Wide Association Study
Genomics
Humans
Mathematics
Medical records
Medical research
Medicine
Models, Statistical
Phenotype
Physicians
Polymorphism, Single Nucleotide - genetics
Risk Factors
Silver
Standard data
Statistical analysis
Statistical methods
Statistical tests
Studies
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0063481