메뉴 건너뛰기




Volumn 7, Issue 1, 2015, Pages

Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network

(21)  Crosslin, David R a,b   Robertson, Peggy D b   Carrell, David S c   Gordon, Adam S b   Hanna, David S b   Burt, Amber a   Fullerton, Stephanie M a   Scrol, Aaron c   Ralston, James b   Leppig, Kathleen b   Hartzler, Andrea b   Baldwin, Eric b   Andrade, Mariza de d   Kullo, Iftikhar J d   Tromp, Gerard e   Doheny, Kimberly F f   Ritchie, Marylyn D g,h   Crane, Paul K a   Nickerson, Deborah A b   Larson, Eric B c   more..


Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; RYANODINE RECEPTOR 1; RYANODINE RECEPTOR 2; SODIUM CHANNEL NAV1.5;

EID: 84938216839     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0181-z     Document Type: Article
Times cited : (14)

References (20)
  • 2
    • 79951809825 scopus 로고    scopus 로고
    • Cpic: Clinical pharmacogenetics implementation consortium of the pharmacogenomics research network
    • Relling M, Klein T. Cpic: Clinical pharmacogenetics implementation consortium of the pharmacogenomics research network. Clin Pharmacol Ther. 2011; 89:464-7. doi:10.1038/clpt.2010.279.
    • (2011) Clin Pharmacol Ther , vol.89 , pp. 464-467
    • Relling, M.1    Klein, T.2
  • 3
    • 84938211915 scopus 로고    scopus 로고
    • Pgrnseq: A targeted capture sequencing panel for pharmacogenetic research and implementation
    • Pharmacogenetics and Genomics in press
    • Gordon A, Smith J, Metzker ML, ER M, Nickerson DA, Fulton R, et al.Pgrnseq: A targeted capture sequencing panel for pharmacogenetic research and implementation. Pharmacogenetics and Genomics in press. 2015.
    • (2015)
    • Gordon, A.1    Smith, J.2    Metzker, M.L.3    ER, M.4    Nickerson, D.A.5    Fulton, R.6
  • 4
    • 84900854522 scopus 로고    scopus 로고
    • Incorporation of pharmacogenomics into routine clinical practice: the clinical pharmacogenetics implementation consortium (cpic) guideline development process
    • Caudle KE, Klein TE, Hoffman JM, Müller DJ, Whirl-Carrillo M, Gong L, et al. Incorporation of pharmacogenomics into routine clinical practice: the clinical pharmacogenetics implementation consortium (cpic) guideline development process. Curr Drug Metab. 2014; 15:209-17. doi:10.2174/1389200215666140130124910.
    • (2014) Curr Drug Metab , vol.15 , pp. 209-217
    • Caudle, K.E.1    Klein, T.E.2    Hoffman, J.M.3    Müller, D.J.4    Whirl-Carrillo, M.5    Gong, L.6
  • 5
    • 84880059657 scopus 로고    scopus 로고
    • The electronic medical records and genomics (emerge) network: past, present, and future
    • Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, et al. The electronic medical records and genomics (emerge) network: past, present, and future. Genet Med. 2013; 15:761-71.
    • (2013) Genet Med , vol.15 , pp. 761-771
    • Gottesman, O.1    Kuivaniemi, H.2    Tromp, G.3    Faucett, W.A.4    Li, R.5    Manolio, T.A.6
  • 6
    • 79251581866 scopus 로고    scopus 로고
    • The emerge network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies
    • McCarty CA, Chisholm RL, Chute CG, Kullo IJ, Jarvik GP, Larson EB, et al. The emerge network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics. 2011; 4:13-13. doi:10.1186/1755-8794-4-13.
    • (2011) BMC Med Genomics , vol.4 , pp. 13-13
    • McCarty, C.A.1    Chisholm, R.L.2    Chute, C.G.3    Kullo, I.J.4    Jarvik, G.P.5    Larson, E.B.6
  • 7
    • 84938214172 scopus 로고    scopus 로고
    • Clinical Laboratory Improvement Amendments; Refining the structure and content of clinical genomic reports
    • Centers for Medicare & Medicaid Services ((Section 42 CFR §493.1291)).
    • Clinical Laboratory Improvement Amendments; Refining the structure and content of clinical genomic reports. Centers for Medicare & Medicaid Services ((Section 42 CFR §493.1291)).
  • 8
    • 84921648422 scopus 로고    scopus 로고
    • Design and anticipated outcomes of the emerge-pgx project: A multicenter pilot for preemptive pharmacogenomics in electronic health record systems
    • Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, et al. Design and anticipated outcomes of the emerge-pgx project: A multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 2014; 96:482-9. doi:10.1038/clpt.2014.137.
    • (2014) Clin Pharmacol Ther , vol.96 , pp. 482-489
    • Rasmussen-Torvik, L.J.1    Stallings, S.C.2    Gordon, A.S.3    Almoguera, B.4    Basford, M.A.5    Bielinski, S.J.6
  • 9
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation dna sequencing data
    • DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation dna sequencing data. Nat Genet. 2011; 43:491-8.
    • (2011) Nat Genet , vol.43 , pp. 491-498
    • DePristo, M.A.1    Banks, E.2    Poplin, R.3    Garimella, K.V.4    Maguire, J.R.5    Hartl, C.6
  • 10
    • 77956295988 scopus 로고    scopus 로고
    • The genome analysis toolkit: A mapreduce framework for analyzing next-generation dna sequencing data
    • McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: A mapreduce framework for analyzing next-generation dna sequencing data. Genome Res. 2010; 20:1297-1303. doi:10.1101/gr.107524.110.
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5    Kernytsky, A.6
  • 11
    • 84896009017 scopus 로고    scopus 로고
    • From FastQ Data to High-Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline: John Wiley & Sons, Inc.
    • Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, del Angel G, Levy-Moonshine A, et al. From FastQ Data to High-Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline: John Wiley & Sons, Inc.; 2002. doi:10.1002/0471250953.bi1110s43.
    • (2002)
    • Van der Auwera, G.A.1    Carneiro, M.O.2    Hartl, C.3    Poplin, R.4    del Angel, G.5    Levy-Moonshine, A.6
  • 12
    • 84862506964 scopus 로고    scopus 로고
    • A program for annotating and predicting the effects of single nucleotide polymorphisms, snpeff: Snps in the genome of drosophila melanogaster strain w(1118); iso-2; iso-3
    • Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, snpeff: Snps in the genome of drosophila melanogaster strain w(1118); iso-2; iso-3. Fly. 2012; 6:80-92. doi:10.4161/fly.19695.
    • (2012) Fly , vol.6 , pp. 80-92
    • Cingolani, P.1    Platts, A.2    Wang, L.L.3    Coon, M.4    Nguyen, T.5    Wang, L.6
  • 13
    • 84891809093 scopus 로고    scopus 로고
    • Clinvar: public archive of relationships among sequence variation and human phenotype
    • Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, et al. Clinvar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014; 42:980-5. doi:10.1093/nar/gkt1113.
    • (2014) Nucleic Acids Res , vol.42 , pp. 980-985
    • Landrum, M.J.1    Lee, J.M.2    Riley, G.R.3    Jang, W.4    Rubinstein, W.S.5    Church, D.M.6
  • 14
    • 84938196750 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM®;. Johns Hopkins University: McKusick-Nathans Institute of Genetic Medicine
    • Online Mendelian Inheritance in Man, OMIM®;. Johns Hopkins University: McKusick-Nathans Institute of Genetic Medicine; 2014.
    • (2014)
  • 16
    • 84938200484 scopus 로고    scopus 로고
    • IUPAC-IUB Joint Commission on Biochemical Nomenclature Abbreviations and Symbols for the Description of Conformations of Polynucleotide Chains
    • John Wiley & Sons, Inc
    • IUPAC-IUB Joint Commission on Biochemical Nomenclature Abbreviations and Symbols for the Description of Conformations of Polynucleotide Chains: John Wiley & Sons, Inc; 2001. doi:10.1002/0471142700.nca01cs00.
    • (2001)
  • 17
    • 0017086790 scopus 로고
    • Drug metabolism in thyroid disease
    • Eichelbaum M. Drug metabolism in thyroid disease. 1976; 1:339-50. doi:10.2165/00003088-197601050-00002.
    • (1976) , vol.1 , pp. 339-350
    • Eichelbaum, M.1
  • 18
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014; 46:310-5.
    • (2014) Nat Genet , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.