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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: bielinski sj. Nat Biotechnol. 2013 Dec;31(12):1102-10. doi: 10.1038/nbt.2749. Nat Biotechnol. 2013. PMID: 24270849 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: bielinski sj. Sci Transl Med. 2011 Apr 20;3(79):79re1. doi: 10.1126/scitranslmed.3001807. Sci Transl Med. 2011. PMID: 21508311 Free PMC article.
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
Bielinski SJ, Chai HS, Pathak J, Talwalkar JA, Limburg PJ, Gullerud RE, Sicotte H, Klee EW, Ross JL, Kocher JP, Kullo IJ, Heit JA, Petersen GM, de Andrade M, Chute CG. Bielinski SJ, et al. Mayo Clin Proc. 2011 Jul;86(7):606-14. doi: 10.4065/mcp.2011.0178. Epub 2011 Jun 6. Mayo Clin Proc. 2011. PMID: 21646302 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: bielinski sj. 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.
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study.
Kho AN, Hayes MG, Rasmussen-Torvik L, Pacheco JA, Thompson WK, Armstrong LL, Denny JC, Peissig PL, Miller AW, Wei WQ, Bielinski SJ, Chute CG, Leibson CL, Jarvik GP, Crosslin DR, Carlson CS, Newton KM, Wolf WA, Chisholm RL, Lowe WL. Kho AN, et al. Among authors: bielinski sj. J Am Med Inform Assoc. 2012 Mar-Apr;19(2):212-8. doi: 10.1136/amiajnl-2011-000439. Epub 2011 Nov 19. J Am Med Inform Assoc. 2012. PMID: 22101970 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: bielinski sj. 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: bielinski sj. 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.
181 results