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PLoS One. 2013 Jun 10;8(6):e63481. doi: 10.1371/journal.pone.0063481. Print 2013.

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

Author information

1
Department of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America. amcdavid@fhcrc.org

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.

PMID:
23762230
PMCID:
PMC3677889
DOI:
10.1371/journal.pone.0063481
[Indexed for MEDLINE]
Free PMC Article

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