-
1
-
-
84866611528
-
Pharmacogenomics knowledge for personalized medicine
-
Whirl-Carrillo M, McDonagh E, Hebert J, Gong L, Sangkuhl K, Thorn C, et al. Pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther. 2012; 92:414-7. doi:10.1038/clpt.2012.96.
-
(2012)
Clin Pharmacol Ther
, vol.92
, pp. 414-417
-
-
Whirl-Carrillo, M.1
McDonagh, E.2
Hebert, J.3
Gong, L.4
Sangkuhl, K.5
Thorn, C.6
-
2
-
-
79951809825
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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)
-
-
-
15
-
-
77953446523
-
The human gene mutation database: 2008 update
-
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, et al. The human gene mutation database: 2008 update. Genome Med. 2009; 1:13-13. doi:10.1186/gm13.
-
(2009)
Genome Med
, vol.1
, pp. 13-13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
Thomas, N.S.6
-
16
-
-
84938200484
-
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
-
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
-
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
-
19
-
-
22244452677
-
Distribution and intensity of constraint in mammalian genomic sequence
-
Cooper GM, Stone EA, Asimenos G, Branch NCSPGT, NHGRI NISCN, Green ED, et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005; 15:901-13. doi:10.1101/gr.3577405.
-
(2005)
Genome Res
, vol.15
, pp. 901-913
-
-
Cooper, G.M.1
Stone, E.A.2
Asimenos, G.3
Branch, N.C.S.P.G.T.4
NHGRI, N.I.S.C.N.5
Green, E.D.6
-
20
-
-
84896315067
-
Refining the structure and content of clinical genomic reports
-
Dorschner MO, Amendola LM, Shirts BH, Kiedrowski L, Salama J, Gordon AS, et al. Refining the structure and content of clinical genomic reports. Am J Med Genet Part C: Sem Med Genet. 2014; 166:85-92. doi:10.1002/ajmg.c.31395.
-
(2014)
Am J Med Genet Part C: Sem Med Genet
, vol.166
, pp. 85-92
-
-
Dorschner, M.O.1
Amendola, L.M.2
Shirts, B.H.3
Kiedrowski, L.4
Salama, J.5
Gordon, A.S.6
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