메뉴 건너뛰기




Volumn 8, Issue 6, 2013, Pages

Enhancing the Power of Genetic Association Studies through the Use of Silver Standard Cases Derived from Electronic Medical Records

(32)  McDavid, Andrew a   Crane, Paul K b   Newton, Katherine M c   Crosslin, David R d   McCormick, Wayne b   Weston, Noah c   Ehrlich, Kelly c   Hart, Eugene c   Harrison, Robert c   Kukull, Walter A d   Rottscheit, Carla e   Peissig, Peggy e   Stefanski, Elisha e   McCarty, Catherine A f   Zuvich, Rebecca Lynn g   Ritchie, Marylyn D h   Haines, Jonathan L g   Denny, Joshua C i   Schellenberg, Gerard D j   de Andrade, Mariza k   more..


Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ALZHEIMER DISEASE; ANALYTICAL ERROR; ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; ELECTRONIC MEDICAL RECORD; FEASIBILITY STUDY; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC MODEL; GENETIC RISK; GENOTYPE; GOLD STANDARD; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MATHEMATICAL MODEL; PHENOTYPE; SILVER STANDARD; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARD; VALIDATION PROCESS;

EID: 84878832780     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0063481     Document Type: Article
Times cited : (15)

References (39)
  • 1
    • 79251581866 scopus 로고    scopus 로고
    • The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies
    • McCarty C, Chisholm R, Chute C, Kullo I, Jarvik G, et al. (2011) The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Medical Genomics 4: 13.
    • (2011) BMC Medical Genomics , vol.4 , pp. 13
    • McCarty, C.1    Chisholm, R.2    Chute, C.3    Kullo, I.4    Jarvik, G.5
  • 2
    • 79955464911 scopus 로고    scopus 로고
    • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
    • Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, et al. (2011) Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 43: 436-441.
    • (2011) Nat Genet , vol.43 , pp. 436-441
    • Naj, A.C.1    Jun, G.2    Beecham, G.W.3    Wang, L.S.4    Vardarajan, B.N.5
  • 3
    • 0039245568 scopus 로고
    • An Investigation of the Effect of Misclassification on the Properties of $\chî2$-Tests in the Analysis of Categorical Data
    • Mote VL, Anderson RL, (1965) An Investigation of the Effect of Misclassification on the Properties of $\chî2$-Tests in the Analysis of Categorical Data. Biometrika 52: 95-109.
    • (1965) Biometrika , vol.52 , pp. 95-109
    • Mote, V.L.1    Anderson, R.L.2
  • 4
    • 0001174368 scopus 로고
    • On the Limiting Power Function of the Frequency Chi-Square Test
    • Mitra SK, (1958) On the Limiting Power Function of the Frequency Chi-Square Test. The Annals of Mathematical Statistics 29: 1221-1233.
    • (1958) The Annals of Mathematical Statistics , vol.29 , pp. 1221-1233
    • Mitra, S.K.1
  • 5
    • 25444509248 scopus 로고    scopus 로고
    • Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies
    • Edwards B, Haynes C, Levenstien M, Finch S, Gordon D, (2005) Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies. BMC Genetics 6: 18.
    • (2005) BMC Genetics , vol.6 , pp. 18
    • Edwards, B.1    Haynes, C.2    Levenstien, M.3    Finch, S.4    Gordon, D.5
  • 6
    • 12244264435 scopus 로고    scopus 로고
    • Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits
    • Purcell S, Cherny SS, Sham PC, (2003) Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19: 149-150.
    • (2003) Bioinformatics , vol.19 , pp. 149-150
    • Purcell, S.1    Cherny, S.S.2    Sham, P.C.3
  • 7
    • 79955484414 scopus 로고    scopus 로고
    • Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
    • Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, et al. (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 43: 429-435.
    • (2011) Nat Genet , vol.43 , pp. 429-435
    • Hollingworth, P.1    Harold, D.2    Sims, R.3    Gerrish, A.4    Lambert, J.C.5
  • 8
    • 0025681244 scopus 로고
    • University of Washington Alzheimer's Disease Patient Registry (ADPR): 1987-1988
    • Larson EB, Kukull WA, Teri L, McCormick W, Pfanschmidt M, et al. (1990) University of Washington Alzheimer's Disease Patient Registry (ADPR): 1987-1988. Aging (Milano) 2: 404-408.
    • (1990) Aging (Milano) , vol.2 , pp. 404-408
    • Larson, E.B.1    Kukull, W.A.2    Teri, L.3    McCormick, W.4    Pfanschmidt, M.5
  • 9
    • 84870465485 scopus 로고
    • American Psychiatric Association,Washington, DC: American Psychiatric Association
    • American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders. Washington, DC: American Psychiatric Association.
    • (1994) Diagnostic and statistical manual of mental disorders
  • 10
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
    • McKhann G, Drachman D, Folstein M, Katzman R, Price D, et al. (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34: 939-944.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.3    Katzman, R.4    Price, D.5
  • 12
    • 0036845531 scopus 로고    scopus 로고
    • Dementia and Alzheimer disease incidence: a prospective cohort study
    • Kukull WA, Higdon R, Bowen JD, McCormick WC, Teri L, et al. (2002) Dementia and Alzheimer disease incidence: a prospective cohort study. Arch Neurol 59: 1737-1746.
    • (2002) Arch Neurol , vol.59 , pp. 1737-1746
    • Kukull, W.A.1    Higdon, R.2    Bowen, J.D.3    McCormick, W.C.4    Teri, L.5
  • 13
    • 33644800309 scopus 로고    scopus 로고
    • Exercise is associated with reduced risk for incident dementia among persons 65 years of age and older
    • Larson EB, Wang L, Bowen JD, McCormick WC, Teri L, et al. (2006) Exercise is associated with reduced risk for incident dementia among persons 65 years of age and older. Ann Intern Med 144: 73-81.
    • (2006) Ann Intern Med , vol.144 , pp. 73-81
    • Larson, E.B.1    Wang, L.2    Bowen, J.D.3    McCormick, W.C.4    Teri, L.5
  • 14
    • 0037070807 scopus 로고    scopus 로고
    • Quantification of the completeness of follow-up
    • Clark TG, Altman DG, De Stavola BL, (2002) Quantification of the completeness of follow-up. Lancet 359: 1309-1310.
    • (2002) Lancet , vol.359 , pp. 1309-1310
    • Clark, T.G.1    Altman, D.G.2    De Stavola, B.L.3
  • 15
    • 0028290453 scopus 로고
    • The Cognitive Abilities Screening Instrument (CASI): a practical test for cross-cultural epidemiological studies of dementia
    • discussion 62
    • Teng EL, Hasegawa K, Homma A, Imai Y, Larson E, et al. (1994) The Cognitive Abilities Screening Instrument (CASI): a practical test for cross-cultural epidemiological studies of dementia. Int Psychogeriatr 6: 45-58; discussion 62.
    • (1994) Int Psychogeriatr , vol.6 , pp. 45-58
    • Teng, E.L.1    Hasegawa, K.2    Homma, A.3    Imai, Y.4    Larson, E.5
  • 16
    • 0026639249 scopus 로고
    • Criteria for the diagnosis of ischemic vascular dementia proposed by the State of California Alzheimer's Disease Diagnostic and Treatment Centers
    • Chui HC, Victoroff JI, Margolin D, Jagust W, Shankle R, et al. (1992) Criteria for the diagnosis of ischemic vascular dementia proposed by the State of California Alzheimer's Disease Diagnostic and Treatment Centers. Neurology 42: 473-480.
    • (1992) Neurology , vol.42 , pp. 473-480
    • Chui, H.C.1    Victoroff, J.I.2    Margolin, D.3    Jagust, W.4    Shankle, R.5
  • 17
    • 0027534657 scopus 로고
    • Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop
    • Roman GC, Tatemichi TK, Erkinjuntti T, Cummings JL, Masdeu JC, et al. (1993) Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop. Neurology 43: 250-260.
    • (1993) Neurology , vol.43 , pp. 250-260
    • Roman, G.C.1    Tatemichi, T.K.2    Erkinjuntti, T.3    Cummings, J.L.4    Masdeu, J.C.5
  • 19
    • 77958597919 scopus 로고    scopus 로고
    • Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease
    • Kullo IJ, Fan J, Pathak J, Savova GK, Ali Z, et al. (2010) Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease. Journal of the American Medical Informatics Association 17: 568-574.
    • (2010) Journal of the American Medical Informatics Association , vol.17 , pp. 568-574
    • Kullo, I.J.1    Fan, J.2    Pathak, J.3    Savova, G.K.4    Ali, Z.5
  • 20
    • 49949093313 scopus 로고    scopus 로고
    • Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine
    • Roden DM, Pulley JM, Basford MA, Bernard GR, Clayton EW, et al. (2008) Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine. Clin Pharmacol Ther 84: 362-369.
    • (2008) Clin Pharmacol Ther , vol.84 , pp. 362-369
    • Roden, D.M.1    Pulley, J.M.2    Basford, M.A.3    Bernard, G.R.4    Clayton, E.W.5
  • 22
    • 27644529477 scopus 로고    scopus 로고
    • Marshfield Clinic Personalized Medicine Research Project (PMRP): design, methods and recruitment for a large population-based biobank
    • McCarty CA, Wilke RA, Giampietro PF, Wesbrook SD, Caldwell MD, (2005) Marshfield Clinic Personalized Medicine Research Project (PMRP): design, methods and recruitment for a large population-based biobank. Personalized Medicine 2: 49-79.
    • (2005) Personalized Medicine , vol.2 , pp. 49-79
    • McCarty, C.A.1    Wilke, R.A.2    Giampietro, P.F.3    Wesbrook, S.D.4    Caldwell, M.D.5
  • 25
    • 79951480123 scopus 로고    scopus 로고
    • R Development Core Team,Vienna, Austria: R Foundation for Statistical Computing
    • R Development Core Team (2010) R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing.
    • (2010) R: A language and environment for statistical computing
  • 27
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.
    • (2006) Nat Genet , vol.38 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3    Weinblatt, M.E.4    Shadick, N.A.5
  • 28
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Genome Project Consortium
    • Genome Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, et al (2011) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
    • (2011) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1    Altshuler, D.2    Auton, A.3    Brooks, L.D.4
  • 29
    • 67651222400 scopus 로고    scopus 로고
    • A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies
    • Howie BN, Donnelly P, Marchini J, (2009) A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies. PLoS Genet 5: e1000529.
    • (2009) PLoS Genet , vol.5
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 30
    • 77956331627 scopus 로고    scopus 로고
    • Integrating common and rare genetic variation in diverse human populations
    • International Hapmap 3 Consortium
    • International Hapmap 3 Consortium, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, et al (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467: 52-58.
    • (2010) Nature , vol.467 , pp. 52-58
    • Altshuler, D.M.1    Gibbs, R.A.2    Peltonen, L.3    Dermitzakis, E.4
  • 31
    • 52449107055 scopus 로고    scopus 로고
    • Bias-reduced estimators and confidence intervals for odds ratios in genome-wide association studies
    • Zhong H, Prentice RL, (2008) Bias-reduced estimators and confidence intervals for odds ratios in genome-wide association studies. Biostatistics 9: 621-634.
    • (2008) Biostatistics , vol.9 , pp. 621-634
    • Zhong, H.1    Prentice, R.L.2
  • 32
  • 33
    • 33646880609 scopus 로고    scopus 로고
    • LRTae: improving statistical power for genetic association with case/control data when phenotype and/or genotype misclassification errors are present
    • Barral S, Haynes C, Stone M, Gordon D, (2006) LRTae: improving statistical power for genetic association with case/control data when phenotype and/or genotype misclassification errors are present. BMC Genetics 7: 24.
    • (2006) BMC Genetics , vol.7 , pp. 24
    • Barral, S.1    Haynes, C.2    Stone, M.3    Gordon, D.4
  • 35
    • 33644898569 scopus 로고    scopus 로고
    • Diabetes case identification methods applied to electronic medical record systems: their use in HIV-infected patients
    • Crane HM, Kadane JB, Crane PK, Kitahata MM, (2006) Diabetes case identification methods applied to electronic medical record systems: their use in HIV-infected patients. Curr HIV Res 4: 97-106.
    • (2006) Curr HIV Res , vol.4 , pp. 97-106
    • Crane, H.M.1    Kadane, J.B.2    Crane, P.K.3    Kitahata, M.M.4
  • 37
    • 67650964051 scopus 로고    scopus 로고
    • Increase of rejection rate in case-control studies with the differential genotyping error rates
    • Ahn K, Gordon D, Finch SJ, (2009) Increase of rejection rate in case-control studies with the differential genotyping error rates. Stat Appl Genet Mol Biol 8: 1544-6115.
    • (2009) Stat Appl Genet Mol Biol , vol.8 , pp. 1544-6115
    • Ahn, K.1    Gordon, D.2    Finch, S.J.3
  • 38
    • 33744481021 scopus 로고    scopus 로고
    • Effects of differential genotyping error rate on the type I error probability of case-control studies
    • Moskvina V, Craddock N, Holmans P, Owen MJ, O'Donovan MC, (2006) Effects of differential genotyping error rate on the type I error probability of case-control studies. Hum Hered 61: 55-64.
    • (2006) Hum Hered , vol.61 , pp. 55-64
    • Moskvina, V.1    Craddock, N.2    Holmans, P.3    Owen, M.J.4    O'Donovan, M.C.5
  • 39
    • 77954182774 scopus 로고    scopus 로고
    • A Cost-Effective Statistical Method to Correct for Differential Genotype Misclassification When Performing Case-Control Genetic Association
    • Londono D, Haynes C, De La Vega FM, Finch SJ, Gordon D, (2010) A Cost-Effective Statistical Method to Correct for Differential Genotype Misclassification When Performing Case-Control Genetic Association. Human Heredity 70: 102-108.
    • (2010) Human Heredity , vol.70 , pp. 102-108
    • Londono, D.1    Haynes, C.2    De La Vega, F.M.3    Finch, S.J.4    Gordon, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.