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Page 1
Desiderata for computable representations of electronic health records-driven phenotype algorithms.
Mo H, Thompson WK, Rasmussen LV, Pacheco JA, Jiang G, Kiefer R, Zhu Q, Xu J, Montague E, Carrell DS, Lingren T, Mentch FD, Ni Y, Wehbe FH, Peissig PL, Tromp G, Larson EB, Chute CG, Pathak J, Denny JC, Speltz P, Kho AN, Jarvik GP, Bejan CA, Williams MS, Borthwick K, Kitchner TE, Roden DM, Harris PA. Mo H, et al. Among authors: kitchner te. J Am Med Inform Assoc. 2015 Nov;22(6):1220-30. doi: 10.1093/jamia/ocv112. Epub 2015 Sep 5. J Am Med Inform Assoc. 2015. PMID: 26342218 Free PMC article.
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.
Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith ME, Böttinger EP, Williams MS; eMERGE Network. Gottesman O, et al. Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Genet Med. 2013. PMID: 23743551 Free PMC article. Review.
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group; Burke W. Jarvik GP, et al. Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814192 Free PMC article.
Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.
Ng MC, Shriner D, Chen BH, Li J, Chen WM, Guo X, Liu J, Bielinski SJ, Yanek LR, Nalls MA, Comeau ME, Rasmussen-Torvik LJ, Jensen RA, Evans DS, Sun YV, An P, Patel SR, Lu Y, Long J, Armstrong LL, Wagenknecht L, Yang L, Snively BM, Palmer ND, Mudgal P, Langefeld CD, Keene KL, Freedman BI, Mychaleckyj JC, Nayak U, Raffel LJ, Goodarzi MO, Chen YD, Taylor HA Jr, Correa A, Sims M, Couper D, Pankow JS, Boerwinkle E, Adeyemo A, Doumatey A, Chen G, Mathias RA, Vaidya D, Singleton AB, Zonderman AB, Igo RP Jr, Sedor JR; FIND Consortium; Kabagambe EK, Siscovick DS, McKnight B, Rice K, Liu Y, Hsueh WC, Zhao W, Bielak LF, Kraja A, Province MA, Bottinger EP, Gottesman O, Cai Q, Zheng W, Blot WJ, Lowe WL, Pacheco JA, Crawford DC; eMERGE Consortium; DIAGRAM Consortium; Grundberg E; MuTHER Consortium; Rich SS, Hayes MG, Shu XO, Loos RJ, Borecki IB, Peyser PA, Cummings SR, Psaty BM, Fornage M, Iyengar SK, Evans MK, Becker DM, Kao WH, Wilson JG, Rotter JI, Sale MM, Liu S, Rotimi CN, Bowden DW; MEta-analysis of type 2 DIabetes in African Americans Consortium. Ng MC, et al. PLoS Genet. 2014 Aug 7;10(8):e1004517. doi: 10.1371/journal.pgen.1004517. eCollection 2014 Aug. PLoS Genet. 2014. PMID: 25102180 Free PMC article.
A polymorphism in HLA-G modifies statin benefit in asthma.
Naidoo D, Wu AC, Brilliant MH, Denny J, Ingram C, Kitchner TE, Linneman JG, McGeachie MJ, Roden DM, Shaffer CM, Shah A, Weeke P, Weiss ST, Xu H, Medina MW. Naidoo D, et al. Among authors: kitchner te. Pharmacogenomics J. 2015 Jun;15(3):272-7. doi: 10.1038/tpj.2014.55. Epub 2014 Sep 30. Pharmacogenomics J. 2015. PMID: 25266681 Free PMC article.
Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Westra HJ, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice AE, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Lui JC, Mangino M, Mateo Leach I, Medina-Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Arnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi-Boehm S, Cooper M, Daw EW, De Jong PA, Deelen J, Delgado G, Denny JC, Dhonukshe-Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, F… See abstract for full author list ➔ Wood AR, et al. Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282103 Free PMC article.
Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network.
Hall MA, Verma SS, Wallace J, Lucas A, Berg RL, Connolly J, Crawford DC, Crosslin DR, de Andrade M, Doheny KF, Haines JL, Harley JB, Jarvik GP, Kitchner T, Kuivaniemi H, Larson EB, Carrell DS, Tromp G, Vrabec TR, Pendergrass SA, McCarty CA, Ritchie MD. Hall MA, et al. Genet Epidemiol. 2015 Jul;39(5):376-84. doi: 10.1002/gepi.21902. Epub 2015 May 17. Genet Epidemiol. 2015. PMID: 25982363 Free PMC article.
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP. Gallego CJ, et al. Among authors: kitchner te. Am J Hum Genet. 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365338 Free PMC article.
55 results