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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2013
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oai:doaj.org-article:fa372963e31e49b88686fb2f6c50fec62021-11-18T07:42:32ZEnhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records.1932-620310.1371/journal.pone.0063481https://doaj.org/article/fa372963e31e49b88686fb2f6c50fec62013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23762230/?tool=EBIhttps://doaj.org/toc/1932-6203The 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.Andrew McDavidPaul K CraneKatherine M NewtonDavid R CrosslinWayne McCormickNoah WestonKelly EhrlichEugene HartRobert HarrisonWalter A KukullCarla RottscheitPeggy PeissigElisha StefanskiCatherine A McCartyRebecca Lynn ZuvichMarylyn D RitchieJonathan L HainesJoshua C DennyGerard D SchellenbergMariza de AndradeIftikhar KulloRongling LiDaniel MirelAndrew CrenshawJames D BowenGe LiDebby TsuangSusan McCurryLinda TeriEric B LarsonGail P JarvikChris S CarlsonPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 6, p e63481 (2013) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Andrew McDavid Paul K Crane Katherine M Newton David R Crosslin Wayne McCormick Noah Weston Kelly Ehrlich Eugene Hart Robert Harrison Walter A Kukull Carla Rottscheit Peggy Peissig Elisha Stefanski Catherine A McCarty Rebecca Lynn Zuvich Marylyn D Ritchie Jonathan L Haines Joshua C Denny Gerard D Schellenberg Mariza de Andrade Iftikhar Kullo Rongling Li Daniel Mirel Andrew Crenshaw James D Bowen Ge Li Debby Tsuang Susan McCurry Linda Teri Eric B Larson Gail P Jarvik Chris S Carlson Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. |
| description |
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. |
| format |
article |
| author |
Andrew McDavid Paul K Crane Katherine M Newton David R Crosslin Wayne McCormick Noah Weston Kelly Ehrlich Eugene Hart Robert Harrison Walter A Kukull Carla Rottscheit Peggy Peissig Elisha Stefanski Catherine A McCarty Rebecca Lynn Zuvich Marylyn D Ritchie Jonathan L Haines Joshua C Denny Gerard D Schellenberg Mariza de Andrade Iftikhar Kullo Rongling Li Daniel Mirel Andrew Crenshaw James D Bowen Ge Li Debby Tsuang Susan McCurry Linda Teri Eric B Larson Gail P Jarvik Chris S Carlson |
| author_facet |
Andrew McDavid Paul K Crane Katherine M Newton David R Crosslin Wayne McCormick Noah Weston Kelly Ehrlich Eugene Hart Robert Harrison Walter A Kukull Carla Rottscheit Peggy Peissig Elisha Stefanski Catherine A McCarty Rebecca Lynn Zuvich Marylyn D Ritchie Jonathan L Haines Joshua C Denny Gerard D Schellenberg Mariza de Andrade Iftikhar Kullo Rongling Li Daniel Mirel Andrew Crenshaw James D Bowen Ge Li Debby Tsuang Susan McCurry Linda Teri Eric B Larson Gail P Jarvik Chris S Carlson |
| author_sort |
Andrew McDavid |
| title |
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. |
| title_short |
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. |
| title_full |
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. |
| title_fullStr |
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. |
| title_full_unstemmed |
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. |
| title_sort |
enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/fa372963e31e49b88686fb2f6c50fec6 |
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