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Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM. Denny JC, et al. Among authors: li r. Nat Biotechnol. 2013 Dec;31(12):1102-10. doi: 10.1038/nbt.2749. Nat Biotechnol. 2013. PMID: 24270849 Free PMC article.
Quality control procedures for genome-wide association studies.
Turner S, Armstrong LL, Bradford Y, Carlson CS, Crawford DC, Crenshaw AT, de Andrade M, Doheny KF, Haines JL, Hayes G, Jarvik G, Jiang L, Kullo IJ, Li R, Ling H, Manolio TA, Matsumoto M, McCarty CA, McDavid AN, Mirel DB, Paschall JE, Pugh EW, Rasmussen LV, Wilke RA, Zuvich RL, Ritchie MD. Turner S, et al. Among authors: li r. Curr Protoc Hum Genet. 2011 Jan;Chapter 1:Unit1.19. doi: 10.1002/0471142905.hg0119s68. Curr Protoc Hum Genet. 2011. PMID: 21234875 Free PMC article.
Electronic medical records for genetic research: results of the eMERGE consortium.
Kho AN, Pacheco JA, Peissig PL, Rasmussen L, Newton KM, Weston N, Crane PK, Pathak J, Chute CG, Bielinski SJ, Kullo IJ, Li R, Manolio TA, Chisholm RL, Denny JC. Kho AN, et al. Among authors: li r. Sci Transl Med. 2011 Apr 20;3(79):79re1. doi: 10.1126/scitranslmed.3001807. Sci Transl Med. 2011. PMID: 21508311 Free PMC article.
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.
Denny JC, Crawford DC, Ritchie MD, Bielinski SJ, Basford MA, Bradford Y, Chai HS, Bastarache L, Zuvich R, Peissig P, Carrell D, Ramirez AH, Pathak J, Wilke RA, Rasmussen L, Wang X, Pacheco JA, Kho AN, Hayes MG, Weston N, Matsumoto M, Kopp PA, Newton KM, Jarvik GP, Li R, Manolio TA, Kullo IJ, Chute CG, Chisholm RL, Larson EB, McCarty CA, Masys DR, Roden DM, de Andrade M. Denny JC, et al. Among authors: li r. Am J Hum Genet. 2011 Oct 7;89(4):529-42. doi: 10.1016/j.ajhg.2011.09.008. Am J Hum Genet. 2011. PMID: 21981779 Free PMC article.
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.
Crosslin DR, McDavid A, Weston N, Nelson SC, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, Kho A, Hayes MG, Pretel S, Saip A, Ritchie MD, Crawford DC, Crane PK, Newton K, Li R, Mirel DB, Crenshaw A, Larson EB, Carlson CS, Jarvik GP; Electronic Medical Records and Genomics (eMERGE) Network. Crosslin DR, et al. Among authors: li r. Hum Genet. 2012 Apr;131(4):639-52. doi: 10.1007/s00439-011-1103-9. Epub 2011 Oct 30. Hum Genet. 2012. PMID: 22037903 Free PMC article.
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality.
Zuvich RL, Armstrong LL, Bielinski SJ, Bradford Y, Carlson CS, Crawford DC, Crenshaw AT, de Andrade M, Doheny KF, Haines JL, Hayes MG, Jarvik GP, Jiang L, Kullo IJ, Li R, Ling H, Manolio TA, Matsumoto ME, McCarty CA, McDavid AN, Mirel DB, Olson LM, Paschall JE, Pugh EW, Rasmussen LV, Rasmussen-Torvik LJ, Turner SD, Wilke RA, Ritchie MD. Zuvich RL, et al. Among authors: li r. Genet Epidemiol. 2011 Dec;35(8):887-98. doi: 10.1002/gepi.20639. Genet Epidemiol. 2011. PMID: 22125226 Free PMC article.
High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.
Rasmussen-Torvik LJ, Pacheco JA, Wilke RA, Thompson WK, Ritchie MD, Kho AN, Muthalagu A, Hayes MG, Armstrong LL, Scheftner DA, Wilkins JT, Zuvich RL, Crosslin D, Roden DM, Denny JC, Jarvik GP, Carlson CS, Kullo IJ, Bielinski SJ, McCarty CA, Li R, Manolio TA, Crawford DC, Chisholm RL. Rasmussen-Torvik LJ, et al. Among authors: li r. Clin Transl Sci. 2012 Oct;5(5):394-9. doi: 10.1111/j.1752-8062.2012.00446.x. Epub 2012 Aug 23. Clin Transl Sci. 2012. PMID: 23067351 Free PMC article.
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