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

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, Bowan, James D., Li, Ge, Tsuang, Debby, McCurry, Susan, Teri, Linda, Larson, Eric B., Jarvik, Gail P. and Carlson, Chris S. (2013) Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. PLoS One, 8 6: e63481.1-e63481.9. doi:10.1371/journal.pone.0063481

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Author 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
Bowan, James D.
Li, Ge
Tsuang, Debby
McCurry, Susan
Teri, Linda
Larson, Eric B.
Jarvik, Gail P.
Carlson, Chris S.
Title Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records
Journal name PLoS One   Check publisher's open access policy
ISSN 1932-6203
Publication date 2013-06-10
Sub-type Article (original research)
DOI 10.1371/journal.pone.0063481
Open Access Status DOI
Volume 8
Issue 6
Start page e63481.1
End page e63481.9
Total pages 9
Editor Frank Emmert-Streib
Place of publication San Francisco, CA, United States
Publisher Public Library of Science
Collection year 2014
Language eng
Formatted 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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Nursing, Midwifery and Social Work Publications
 
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Citation counts: TR Web of Science Citation Count  Cited 6 times in Thomson Reuters Web of Science Article | Citations
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Created: Tue, 10 Dec 2013, 12:42:59 EST by Vicki Percival on behalf of School of Nursing, Midwifery and Social Work