메뉴 건너뛰기




Volumn 2, Issue 1, 2017, Pages

Genome sequencing as a platform for pharmacogenetic genotyping: A pediatric cohort study

Author keywords

[No Author keywords available]

Indexed keywords


EID: 85041410740     PISSN: None     EISSN: 20567944     Source Type: Journal    
DOI: 10.1038/s41525-017-0021-8     Document Type: Article
Times cited : (39)

References (45)
  • 1
    • 84866593873 scopus 로고    scopus 로고
    • Pharmacogenomics and individualized medicine: Translating science into practice
    • Crews, K. R., Hicks, J. K., Pui, C.-H., Relling, M. V. & Evans, W. E. Pharmacogenomics and individualized medicine: Translating science into practice. Clin. Pharmacol. Ther. 92, 467-475 (2012).
    • (2012) Clin. Pharmacol. Ther , vol.92 , pp. 467-475
    • Crews, K.R.1    Hicks, J.K.2    Pui, C.-H.3    Relling, M.V.4    Evans, W.E.5
  • 2
    • 84928128889 scopus 로고    scopus 로고
    • Clinical association between pharmacogenomics and adverse drug reactions
    • Zhou, Z. W. et al. Clinical association between pharmacogenomics and adverse drug reactions. Drugs 75, 589-631 (2015).
    • (2015) Drugs , vol.75 , pp. 589-631
    • Zhou, Z.W.1
  • 3
    • 84893441052 scopus 로고    scopus 로고
    • Paediatric perspective on pharmacogenomics
    • Stevens, A. et al. Paediatric perspective on pharmacogenomics. Pharmacogenomics 14, 1889-1905 (2013).
    • (2013) Pharmacogenomics , vol.14 , pp. 1889-1905
    • Stevens, A.1
  • 4
    • 85042283717 scopus 로고    scopus 로고
    • Thermo Fisher Scientific Inc Accessed September 14, 2016
    • Thermo Fisher Scientific Inc., 2016. Available at: http://www.thermofisher.com/ca/ en/home/life-science/pcr/real-time-pcr/real-time-pcr-assays/dme-analysis-usingtaqman. html. Accessed September 14, 2016.
    • (2016)
  • 5
    • 78049396695 scopus 로고    scopus 로고
    • Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: A GeT-RM and Association for Molecular Pathology collaborative project
    • Pratt, V. M. et al. Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project. J. Mol. Diagn. 12, 835-846 (2010).
    • (2010) J. Mol. Diagn , vol.12 , pp. 835-846
    • Pratt, V.M.1
  • 6
    • 84995732984 scopus 로고    scopus 로고
    • Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
    • Stavropoulos, D. J. et al. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. NPJ Genom Med 1, 15012 (2016).
    • (2016) NPJ Genom Med , vol.1 , pp. 15012
    • Stavropoulos, D.J.1
  • 7
    • 84962016912 scopus 로고    scopus 로고
    • Cross-comparison of exome analysis, next-generation sequencing of amplicons, and the iPLEXR ADME PGx panel for pharmacogenomic profiling
    • Chua, E. W. et al.. Cross-comparison of exome analysis, next-generation sequencing of amplicons, and the iPLEXR ADME PGx panel for pharmacogenomic profiling. Front. Pharmacol. 7 (2016). doi:10.3389/fphar.2016.00001.
    • (2016) Front. Pharmacol , vol.7
    • Chua, E.W.1
  • 8
    • 84986625386 scopus 로고    scopus 로고
    • Comparison of genome sequencing and clinical genotyping for pharmacogenes
    • Yang, W. et al. Comparison of genome sequencing and clinical genotyping for pharmacogenes. Clin. Pharmacol. Ther. 100, 380-388 (2016).
    • (2016) Clin. Pharmacol. Ther , vol.100 , pp. 380-388
    • Yang, W.1
  • 9
    • 84882989719 scopus 로고    scopus 로고
    • Update on allele nomenclature for human cytochromes P450 (CYP) and the human cytochrome P450 allele (CYP-Allele) nomenclature database
    • Sim, S. C. & Ingelman-Sundberg, M. Update on allele nomenclature for human cytochromes P450 (CYP) and the human cytochrome P450 allele (CYP-Allele) nomenclature database. Methods Mol. Biol. 987, 251-259 (2013).
    • (2013) Methods Mol. Biol , vol.987 , pp. 251-259
    • Sim, S.C.1    Ingelman-Sundberg, M.2
  • 10
    • 77953915610 scopus 로고    scopus 로고
    • Differential quantification of CYP2D6 gene copy number by four different quantitative real-time PCR assays
    • Ramamoorthy, A. et al. Differential quantification of CYP2D6 gene copy number by four different quantitative real-time PCR assays. Pharmacogenet. Genomics 20, 451 (2010).
    • (2010) Pharmacogenet. Genomics , vol.20 , pp. 451
    • Ramamoorthy, A.1
  • 11
    • 79955463893 scopus 로고    scopus 로고
    • Pharmacogenetics: From bench to byte-an update of guidelines
    • Swen, J. J. et al. Pharmacogenetics: from bench to byte-an update of guidelines. Clin. Pharmacol. Ther. 89, 662-673 (2011).
    • (2011) Clin. Pharmacol. Ther , vol.89 , pp. 662-673
    • Swen, J.J.1
  • 12
    • 85009205080 scopus 로고    scopus 로고
    • Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response
    • Kozyra, M., Ingelman-Sundberg, M. & Lauschke, V. M. Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response. Genet. Med. 19, 20-29 (2016).
    • (2016) Genet. Med , vol.19 , pp. 20-29
    • Kozyra, M.1    Ingelman-Sundberg, M.2    Lauschke, V.M.3
  • 14
    • 84455163168 scopus 로고    scopus 로고
    • Frequency of undetected CYP2D6 hybrid genes in clinical samples: Impact on phenotype prediction
    • Black, J. L., Walker, D. L., O'Kane, D. J. & Harmandayan, M. Frequency of undetected CYP2D6 hybrid genes in clinical samples: impact on phenotype prediction. Drug Metab. Dispos. 40, 111-119 (2012).
    • (2012) Drug Metab. Dispos , vol.40 , pp. 111-119
    • Black, J.L.1    Walker, D.L.2    O'Kane, D.J.3    Harmandayan, M.4
  • 15
    • 73549100850 scopus 로고    scopus 로고
    • CYP2D7.2D6 hybrid tandems: Identification of novel CYP2D6 duplication arrangements and implications for phenotype prediction
    • Gaedigk, A. et al. CYP2D7.2D6 hybrid tandems: identification of novel CYP2D6 duplication arrangements and implications for phenotype prediction. Pharmacogenomics 11, 43-53 (2010).
    • (2010) Pharmacogenomics , vol.11 , pp. 43-53
    • Gaedigk, A.1
  • 16
    • 85009182671 scopus 로고    scopus 로고
    • Constellation: A tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
    • Twist, G. P. et al. Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences. NPJ Genom. Med. 1, 15007, doi:10.1038/npjgenmed.2015.7 (2016).
    • (2016) NPJ Genom. Med , vol.1 , pp. 15007
    • Twist, G.P.1
  • 17
    • 84878234942 scopus 로고    scopus 로고
    • Characterizing and measuring bias in sequence data
    • Ross, M. G. et al. Characterizing and measuring bias in sequence data. Genome Biol. 14, R51, doi:10.1186/gb-2013-14-5-r51 (2013).
    • (2013) Genome Biol , vol.14 , pp. R51
    • Ross, M.G.1
  • 19
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical wholeexome sequencing
    • Yang, Y. et al. Molecular findings among patients referred for clinical wholeexome sequencing. JAMA 312, 1870-1879 (2014).
    • (2014) JAMA , vol.312 , pp. 1870-1879
    • Yang, Y.1
  • 20
    • 84925964952 scopus 로고    scopus 로고
    • Performance of exome sequencing for pharmacogenomics
    • Londin, E. R. et al. Performance of exome sequencing for pharmacogenomics. Per Med. 12, 109-115 (2015).
    • (2015) Per Med , vol.12 , pp. 109-115
    • Londin, E.R.1
  • 21
    • 84886811866 scopus 로고    scopus 로고
    • Computational tools for copy number variation (CNV) detection using next-generation sequencing data: Features and perspectives
    • Zhao, M., Wang, Q., Wang, Q., Jia, P. & Zhao, Z. Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives. BMC Bioinformatics 14, 1 (2013).
    • (2013) BMC Bioinformatics , vol.14 , pp. 1
    • Zhao, M.1    Wang, Q.2    Wang, Q.3    Jia, P.4    Zhao, Z.5
  • 22
    • 84963723500 scopus 로고    scopus 로고
    • Evaluation of somatic copy number estimation tools for wholeexome sequencing data
    • Nam, J. Y. et al. Evaluation of somatic copy number estimation tools for wholeexome sequencing data. Brief Bioinform. 17, 185-192 (2016).
    • (2016) Brief Bioinform , vol.17 , pp. 185-192
    • Nam, J.Y.1
  • 23
    • 33748286746 scopus 로고    scopus 로고
    • Clinical research at a crossroads
    • Zerhouni, E. A. Clinical research at a crossroads. J. Investig. Med. 54, 171-173 (2006).
    • (2006) J. Investig. Med , vol.54 , pp. 171-173
    • Zerhouni, E.A.1
  • 24
    • 0141857724 scopus 로고    scopus 로고
    • Developmental pharmacology-drug disposition, action, and therapy in infants and children
    • Kearns, G. L. et al. Developmental pharmacology-drug disposition, action, and therapy in infants and children. N. Engl. J. Med. 349, 1157-1167 (2003).
    • (2003) N. Engl. J. Med , vol.349 , pp. 1157-1167
    • Kearns, G.L.1
  • 25
    • 85008204452 scopus 로고    scopus 로고
    • Analysis of genetic variation in CYP450 genes for clinical implementation
    • Goh, L. L. et al. Analysis of genetic variation in CYP450 genes for clinical implementation. PLoS ONE 12, e0169233 (2017).
    • (2017) PLoS ONE , vol.12 , pp. e0169233
    • Goh, L.L.1
  • 26
  • 27
    • 84944311937 scopus 로고    scopus 로고
    • Pharmacogenomics in the clinic
    • Relling, M. V. & Evans, W. E. Pharmacogenomics in the clinic. Nature 526, 343-350 (2015).
    • (2015) Nature , vol.526 , pp. 343-350
    • Relling, M.V.1    Evans, W.E.2
  • 28
    • 84930003063 scopus 로고    scopus 로고
    • Pharmacogenomics.how close/far are we to practising individualized medicine for children?
    • Sing, C. W., Cheung, C. L. & Wong, I. C. Pharmacogenomics.how close/far are we to practising individualized medicine for children? Br. J. Clin. Pharmacol. 79, 419-428 (2015).
    • (2015) Br. J. Clin. Pharmacol , vol.79 , pp. 419-428
    • Sing, C.W.1    Cheung, C.L.2    Wong, I.C.3
  • 29
    • 84866625627 scopus 로고    scopus 로고
    • Implementing personalized medicine: Development of a costeffective customized pharmacogenetics genotyping array
    • Johnson, J. A. et al. Implementing personalized medicine: development of a costeffective customized pharmacogenetics genotyping array. Clin. Pharmacol. Ther. 92, 437 (2012).
    • (2012) Clin. Pharmacol. Ther , vol.92 , pp. 437
    • Johnson, J.A.1
  • 30
    • 74949138753 scopus 로고    scopus 로고
    • Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
    • Drmanac, R. et al.. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327, 78-81 (2010).
    • (2010) Science , vol.327 , pp. 78-81
    • Drmanac, R.1
  • 31
    • 84859319800 scopus 로고    scopus 로고
    • Computational techniques for human genome resequencing using mated gapped reads
    • Carnevali, P. et al. Computational techniques for human genome resequencing using mated gapped reads. J. Comp. Biol. 19, 279-292 (2012).
    • (2012) J. Comp. Biol , vol.19 , pp. 279-292
    • Carnevali, P.1
  • 32
    • 84954064957 scopus 로고    scopus 로고
    • Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: A GeT-RM collaborative project
    • Pratt, V. M. et al. Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: A GeT-RM collaborative project. J. Mol. Diagn. 18, 109-123 (2016).
    • (2016) J. Mol. Diagn , vol.18 , pp. 109-123
    • Pratt, V.M.1
  • 33
    • 84865022311 scopus 로고    scopus 로고
    • Primer3-new capabilities and interfaces
    • Untergasser, A. et al. Primer3-new capabilities and interfaces. Nucleic Acids Res. 40, e115-e115 (2012).
    • (2012) Nucleic Acids Res , vol.40 , pp. e115-e115
    • Untergasser, A.1
  • 34
    • 84883170442 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update
    • Scott, S. A. et al. Clinical pharmacogenetics implementation consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clin. Pharmacol. Ther. 94, 317-323 (2013).
    • (2013) Clin. Pharmacol. Ther , vol.94 , pp. 317-323
    • Scott, S.A.1
  • 35
    • 84897022750 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium guidelines for cytochrome P450 2D6 genotype and codeine therapy: 2014 update
    • Crews, K. R. et al. Clinical pharmacogenetics implementation consortium guidelines for cytochrome P450 2D6 genotype and codeine therapy: 2014 update. Clin. Pharmacol. Ther. 95, 376-382 (2014).
    • (2014) Clin. Pharmacol. Ther , vol.95 , pp. 376-382
    • Crews, K.R.1
  • 36
    • 84962294272 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 and CYP2C19 genotypes and dosing of selective serotonin reuptake inhibitors
    • Hicks, J. K. et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 and CYP2C19 genotypes and dosing of selective serotonin reuptake inhibitors. Clin. Pharmacol. Ther. 98, 127-134 (2015).
    • (2015) Clin. Pharmacol. Ther , vol.98 , pp. 127-134
    • Hicks, J.K.1
  • 37
    • 84962207669 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium (CPIC) guidelines for CYP3A5 genotype and tacrolimus dosing
    • Birdwell, K. A. et al. Clinical pharmacogenetics implementation consortium (CPIC) guidelines for CYP3A5 genotype and tacrolimus dosing. Clin. Pharmacol. Ther. 98, 19-24 (2015).
    • (2015) Clin. Pharmacol. Ther , vol.98 , pp. 19-24
    • Birdwell, K.A.1
  • 38
    • 84876665512 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants
    • Hicks, J. K. et al. Clinical pharmacogenetics implementation consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants. Clin. Pharmacol. Ther. 93, 402-408 (2013).
    • (2013) Clin. Pharmacol. Ther , vol.93 , pp. 402-408
    • Hicks, J.K.1
  • 39
    • 84875438476 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update
    • Relling, M. V. et al. Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update. Clin. Pharmacol. Ther. 93, 324-325 (2013).
    • (2013) Clin. Pharmacol. Ther , vol.93 , pp. 324-325
    • Relling, M.V.1
  • 40
    • 80052962391 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing
    • Johnson, J. A. et al. Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin. Pharmacol. Ther. 90, 625 (2011).
    • (2011) Clin. Pharmacol. Ther , vol.90 , pp. 625
    • Johnson, J.A.1
  • 41
    • 38349132802 scopus 로고    scopus 로고
    • The CYP2D6 activity score: Translating genotype information into a qualitative measure of phenotype
    • Gaedigk, A. et al. The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype. Clin. Pharmacol. Ther. 83, 234-242 (2008).
    • (2008) Clin. Pharmacol. Ther , vol.83 , pp. 234-242
    • Gaedigk, A.1
  • 42
    • 84899417586 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing: 2014 update
    • Martin, M. A. et al. Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing: 2014 update. Clin. Pharmacol. Ther. 95, 499-500 (2014).
    • (2014) Clin. Pharmacol. Ther , vol.95 , pp. 499-500
    • Martin, M.A.1
  • 43
    • 84893716593 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and PEG interferon-α-based regimens
    • Muir, A. J. et al. Clinical pharmacogenetics implementation consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and PEG interferon-α.based regimens. Clin. Pharmacol. Ther. 95, 141-146 (2014).
    • (2014) Clin. Pharmacol. Ther , vol.95 , pp. 141-146
    • Muir, A.J.1
  • 44
    • 84921691744 scopus 로고    scopus 로고
    • The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update
    • Ramsey, L. B. et al. The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clin. Pharmacol. Ther. 96, 423-428 (2014).
    • (2014) Clin. Pharmacol. Ther , vol.96 , pp. 423-428
    • Ramsey, L.B.1
  • 45
    • 84899487982 scopus 로고    scopus 로고
    • Recommendations for HLA-B∗15: 02 and HLA-A∗31: 01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions
    • Amstutz, U. et al. Recommendations for HLA-B∗15: 02 and HLA-A∗31: 01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia 55, 496-506 (2014)
    • (2014) Epilepsia , vol.55 , pp. 496-506
    • Amstutz, U.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.