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Volumn , Issue , 2016, Pages 380-388

Comparison of genome sequencing and clinical genotyping for pharmacogenes

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CYTOCHROME P450 2C19; CYTOCHROME P450 2C9; CYTOCHROME P450 2D6; CYTOCHROME P450 3A5; GLUCURONOSYLTRANSFERASE 1A1; HLA B ANTIGEN; SOLUTE CARRIER ORGANIC ANION TRANSPORTER 1B1;

EID: 84986625386     PISSN: 00099236     EISSN: 15326535     Source Type: Journal    
DOI: 10.1002/cpt.411     Document Type: Article
Times cited : (42)

References (46)
  • 1
    • 0035871560 scopus 로고    scopus 로고
    • Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine
    • Evans, W.E. et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J. Clin. Oncol. 19, 2293–2301 (2001).
    • (2001) J. Clin. Oncol. , vol.19 , pp. 2293-2301
    • Evans, W.E.1
  • 2
    • 84867848963 scopus 로고    scopus 로고
    • A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record
    • Hicks, J.K. et al. A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record. Clin. Pharmacol. Ther. 92, 563–566 (2012).
    • (2012) Clin. Pharmacol. Ther. , vol.92 , pp. 563-566
    • Hicks, J.K.1
  • 3
    • 84893549013 scopus 로고    scopus 로고
    • Development and use of active clinical decision support for preemptive pharmacogenomics
    • Bell, G.C. et al. Development and use of active clinical decision support for preemptive pharmacogenomics. J. Am. Med. Inform. Assoc. JAMIA 21, e93–99 (2014).
    • (2014) J. Am. Med. Inform. Assoc. JAMIA , vol.21 , pp. e93-e99
    • Bell, G.C.1
  • 4
    • 84896319867 scopus 로고    scopus 로고
    • PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics
    • Hoffman, J.M. et al. PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics. Am. J. Med. Genet. C Semin. Med. Genet. 166C, 45–55 (2014).
    • (2014) Am. J. Med. Genet. C Semin. Med. Genet. , vol.166C , pp. 45-55
    • Hoffman, J.M.1
  • 5
    • 84920866837 scopus 로고    scopus 로고
    • Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers
    • Dunnenberger, H.M. et al. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu. Rev. Pharmacol. Toxicol. 55, 89–106 (2015).
    • (2015) Annu. Rev. Pharmacol. Toxicol. , vol.55 , pp. 89-106
    • Dunnenberger, H.M.1
  • 6
    • 84865431148 scopus 로고    scopus 로고
    • Concordance of DMET plus genotyping results with those of orthogonal genotyping methods
    • Fernandez, C.A. et al. Concordance of DMET plus genotyping results with those of orthogonal genotyping methods. Clin. Pharmacol. Ther. 92, 360–365 (2012).
    • (2012) Clin. Pharmacol. Ther. , vol.92 , pp. 360-365
    • Fernandez, C.A.1
  • 7
    • 84963812281 scopus 로고    scopus 로고
    • A comparison of DMET Plus microarray and genome-wide technologies by assessing population substructure
    • e-pub ahead of print
    • Jackson, J.N. et al. A comparison of DMET Plus microarray and genome-wide technologies by assessing population substructure. Pharmacogenet. Genomics (2016); e-pub ahead of print.
    • (2016) Pharmacogenet. Genomics
    • Jackson, J.N.1
  • 9
    • 84907687102 scopus 로고    scopus 로고
    • Validation and assessment of variant calling pipelines for next-generation sequencing
    • Pirooznia, M. et al. Validation and assessment of variant calling pipelines for next-generation sequencing. Hum. Genomics. 8, 14 (2014).
    • (2014) Hum. Genomics. , vol.8 , pp. 14
    • Pirooznia, M.1
  • 10
    • 79959309141 scopus 로고    scopus 로고
    • Deep sequencing of patient genomes for disease diagnosis: when will it become routine?
    • &
    • Kingsmore, S.F. & Saunders, C.J. Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Sci. Transl. Med. 3, 87ps23 (2011).
    • (2011) Sci. Transl. Med. , vol.3 , pp. 87ps23
    • Kingsmore, S.F.1    Saunders, C.J.2
  • 11
    • 84905912748 scopus 로고    scopus 로고
    • Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results
    • Tabor, H.K. et al. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am. J. Hum. Genet. 95, 183–193 (2014).
    • (2014) Am. J. Hum. Genet. , vol.95 , pp. 183-193
    • Tabor, H.K.1
  • 12
    • 84907395628 scopus 로고    scopus 로고
    • Diagnostic clinical genome and exome sequencing
    • &
    • Biesecker, L.G. & Green, R.C. Diagnostic clinical genome and exome sequencing. N. Engl. J. Med. 371, 1170 (2014).
    • (2014) N. Engl. J. Med. , vol.371 , pp. 1170
    • Biesecker, L.G.1    Green, R.C.2
  • 13
    • 84861633881 scopus 로고    scopus 로고
    • The Pediatric Cancer Genome Project
    • Downing, J.R. et al. The Pediatric Cancer Genome Project. Nat. Genet. 44, 619–622 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 619-622
    • Downing, J.R.1
  • 14
    • 84862907593 scopus 로고    scopus 로고
    • The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
    • Zhang, J. et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 481, 157–163 (2012).
    • (2012) Nature , vol.481 , pp. 157-163
    • Zhang, J.1
  • 15
    • 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
  • 16
    • 84904857061 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype
    • Relling, M.V. et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype. Clin. Pharmacol. Ther. 96, 169–174 (2014).
    • (2014) Clin. Pharmacol. Ther. , vol.96 , pp. 169-174
    • Relling, M.V.1
  • 17
    • 84862600938 scopus 로고    scopus 로고
    • The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy
    • Wilke, R.A. et al. The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy. Clin. Pharmacol. Ther. 92, 112–117 (2012).
    • (2012) Clin. Pharmacol. Ther. , vol.92 , pp. 112-117
    • Wilke, R.A.1
  • 18
    • 84883193885 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium guidelines for HLA-B genotype and carbamazepine dosing
    • Leckband, S.G. et al. Clinical Pharmacogenetics Implementation Consortium guidelines for HLA-B genotype and carbamazepine dosing. Clin. Pharmacol. Ther. 94, 324–328 (2013).
    • (2013) Clin. Pharmacol. Ther. , vol.94 , pp. 324-328
    • Leckband, S.G.1
  • 19
    • 84901244735 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype
    • Clancy, J.P. et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype. Clin. Pharmacol. Ther. 95, 592–597 (2014).
    • (2014) Clin. Pharmacol. Ther. , vol.95 , pp. 592-597
    • Clancy, J.P.1
  • 20
    • 84893716593 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and PEG interferon-alpha-based regimens
    • Muir, A.J. et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and PEG interferon-alpha-based regimens. Clin. Pharmacol. Ther. 95, 141–146 (2014).
    • (2014) Clin. Pharmacol. Ther. , vol.95 , pp. 141-146
    • Muir, A.J.1
  • 21
    • 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
  • 22
    • 84986569962 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing
    • e-pub ahead of print
    • Gammal, R.S. et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing. Clin. Pharmacol. Ther. (2015); e-pub ahead of print.
    • (2015) Clin. Pharmacol. Ther.
    • Gammal, R.S.1
  • 23
    • 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
  • 24
    • 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
  • 25
    • 84941320229 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update
    • e-pub ahead of print
    • Saito, Y. et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update. Clin. Pharmacol. Ther. (2015); e-pub ahead of print.
    • (2015) Clin. Pharmacol. Ther.
    • Saito, Y.1
  • 26
    • 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, 625–629 (2011).
    • (2011) Clin. Pharmacol. Ther. , vol.90 , pp. 625-629
    • Johnson, J.A.1
  • 27
    • 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
  • 28
    • 84888012165 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing
    • Caudle, K.E. et al. Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin. Pharmacol. Ther. 94, 640–645 (2013).
    • (2013) Clin. Pharmacol. Ther. , vol.94 , pp. 640-645
    • Caudle, K.E.1
  • 29
    • 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, L.J. 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. 96, 482–489 (2014).
    • (2014) Clin. Pharmacol. Ther. , vol.96 , pp. 482-489
    • Rasmussen-Torvik, L.J.1
  • 30
    • 84946565788 scopus 로고    scopus 로고
    • Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes
    • Shukla, S.A. et al. Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes. Nat. Biotechnol. 33, 1152–1158 (2015).
    • (2015) Nat. Biotechnol. , vol.33 , pp. 1152-1158
    • Shukla, S.A.1
  • 31
    • 84867280219 scopus 로고    scopus 로고
    • Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth
    • Fromer, M. et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am. J. Hum. Genet. 91, 597–607 (2012).
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 597-607
    • Fromer, M.1
  • 33
    • 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 Genomic Med. 1, 15007 (2016).
    • (2016) Npj Genomic Med , vol.1 , pp. 15007
    • Twist, G.P.1
  • 34
    • 84927178203 scopus 로고    scopus 로고
    • Establishment of CYP2D6 reference samples by multiple validated genotyping platforms
    • Fang, H. et al. Establishment of CYP2D6 reference samples by multiple validated genotyping platforms. Pharmacogenomics J. 14, 564–572 (2014).
    • (2014) Pharmacogenomics J , vol.14 , pp. 564-572
    • Fang, H.1
  • 35
    • 0034657869 scopus 로고    scopus 로고
    • Donor liver uridine diphosphate (UDP)-glucuronosyltransferase-1A1 deficiency causing Gilbert’s syndrome in liver transplant recipients
    • Te, H.S. et al. Donor liver uridine diphosphate (UDP)-glucuronosyltransferase-1A1 deficiency causing Gilbert’s syndrome in liver transplant recipients. Transplantation 69, 1882–1886 (2000).
    • (2000) Transplantation , vol.69 , pp. 1882-1886
    • Te, H.S.1
  • 36
    • 9144247069 scopus 로고    scopus 로고
    • Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia
    • Kishi, S. et al. Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia. Blood 103, 67–72 (2004).
    • (2004) Blood , vol.103 , pp. 67-72
    • Kishi, S.1
  • 38
    • 84925550130 scopus 로고    scopus 로고
    • OptiType: precision HLA typing from next-generation sequencing data
    • Szolek, A. et al. OptiType: precision HLA typing from next-generation sequencing data. Bioinformatics 30, 3310–3316 (2014).
    • (2014) Bioinformatics , vol.30 , pp. 3310-3316
    • Szolek, A.1
  • 39
    • 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
  • 40
    • 84953212338 scopus 로고    scopus 로고
    • PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation
    • e-pub ahead of print
    • Gordon, A.S. et al. PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation. Pharmacogenet. Genomics (2016); e-pub ahead of print.
    • (2016) Pharmacogenet. Genomics
    • Gordon, A.S.1
  • 41
    • 80455175971 scopus 로고    scopus 로고
    • Identification of novel CYP2D7-2D6 hybrids: non-functional and functional variants
    • Gaedigk, A. et al. Identification of novel CYP2D7-2D6 hybrids: non-functional and functional variants. Front. Pharmacol. 1, 121 (2010).
    • (2010) Front. Pharmacol. , vol.1 , pp. 121
    • Gaedigk, A.1
  • 42
    • 0035071598 scopus 로고    scopus 로고
    • Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression
    • Kuehl, P. et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat. Genet. 27, 383–391 (2001).
    • (2001) Nat. Genet. , vol.27 , pp. 383-391
    • Kuehl, P.1
  • 43
    • 84931074003 scopus 로고    scopus 로고
    • Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data
    • Numanagic, I. et al. Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data. Bioinformatics 31, i27–34 (2015).
    • (2015) Bioinformatics , vol.31 , pp. i27-i34
    • Numanagic, I.1
  • 44
    • 79953249419 scopus 로고    scopus 로고
    • Gene copy number variations: it is important to determine which allele is affected
    • &
    • Ramamoorthy, A. & Skaar, T.C. Gene copy number variations: it is important to determine which allele is affected. Pharmacogenomics 12, 299–301 (2011).
    • (2011) Pharmacogenomics , vol.12 , pp. 299-301
    • Ramamoorthy, A.1    Skaar, T.C.2
  • 45
    • 77952101271 scopus 로고    scopus 로고
    • Challenges in the clinical application of whole-genome sequencing
    • Ormond, K.E. et al. Challenges in the clinical application of whole-genome sequencing. Lancet 375, 1749–1751 (2010).
    • (2010) Lancet , vol.375 , pp. 1749-1751
    • Ormond, K.E.1
  • 46
    • 84930179677 scopus 로고    scopus 로고
    • CONSERTING: integrating copy-number analysis with structural-variation detection
    • Chen, X. et al. CONSERTING: integrating copy-number analysis with structural-variation detection. Nat. Methods 12, 527–530 (2015).
    • (2015) Nat. Methods , vol.12 , pp. 527-530
    • Chen, X.1


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