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Volumn 39, Issue 1, 2012, Pages 26-36

Integration of next-generation sequencing into clinical practice: Are we there yet?

Author keywords

[No Author keywords available]

Indexed keywords

MOLECULAR MARKER; TRANSCRIPTION FACTOR RUNX1;

EID: 84856390048     PISSN: 00937754     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminoncol.2011.11.008     Document Type: Article
Times cited : (40)

References (48)
  • 2
    • 64149123778 scopus 로고    scopus 로고
    • Next-generation sequencing: From basic research to diagnostics
    • K.V. Voelkerding, S.A. Dames, J.D. Durtschi Next-generation sequencing: from basic research to diagnostics Clin Chem 55 2009 641 658
    • (2009) Clin Chem , vol.55 , pp. 641-658
    • Voelkerding, K.V.1    Dames, S.A.2    Durtschi, J.D.3
  • 3
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologiesthe next generation
    • M.L. Metzker Sequencing technologiesthe next generation Nat Rev Genet 11 2010 31 46
    • (2010) Nat Rev Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 4
    • 55549101623 scopus 로고    scopus 로고
    • DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
    • T.J. Ley, E.R. Mardis, L. Ding DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome Nature 456 2008 66 72
    • (2008) Nature , vol.456 , pp. 66-72
    • Ley, T.J.1    Mardis, E.R.2    Ding, L.3
  • 5
    • 78649906060 scopus 로고    scopus 로고
    • DNMT3A mutations in acute myeloid leukemia
    • T.J. Ley, L. Ding, M.J. Walter DNMT3A mutations in acute myeloid leukemia N Engl J Med 363 2010 2424 2433
    • (2010) N Engl J Med , vol.363 , pp. 2424-2433
    • Ley, T.J.1    Ding, L.2    Walter, M.J.3
  • 6
    • 70149093912 scopus 로고    scopus 로고
    • Recurring mutations found by sequencing an acute myeloid leukemia genome
    • E.R. Mardis, L. Ding, D.J. Dooling Recurring mutations found by sequencing an acute myeloid leukemia genome N Engl J Med 361 2009 1058 1066
    • (2009) N Engl J Med , vol.361 , pp. 1058-1066
    • Mardis, E.R.1    Ding, L.2    Dooling, D.J.3
  • 7
    • 77952888699 scopus 로고    scopus 로고
    • De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
    • A. Hoischen, B.W. van Bon, C. Gilissen De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Nat Genet 42 2010 483 485
    • (2010) Nat Genet , vol.42 , pp. 483-485
    • Hoischen, A.1    Van Bon, B.W.2    Gilissen, C.3
  • 8
    • 78649484216 scopus 로고    scopus 로고
    • A de novo paradigm for mental retardation
    • L.E. Vissers, J. de Ligt, C. Gilissen A de novo paradigm for mental retardation Nat Genet 42 2010 1109 1112
    • (2010) Nat Genet , vol.42 , pp. 1109-1112
    • Vissers, L.E.1    De Ligt, J.2    Gilissen, C.3
  • 9
    • 75749096130 scopus 로고    scopus 로고
    • Cancer genome sequencing: A review
    • E.R. Mardis, R.K. Wilson Cancer genome sequencing: a review Hum Mol Genet 18 2009 R163 R168
    • (2009) Hum Mol Genet , vol.18
    • Mardis, E.R.1    Wilson, R.K.2
  • 10
    • 78649329196 scopus 로고    scopus 로고
    • Systematic detection of putative tumor suppressor genes through the combined use of exome and transcriptome sequencing
    • Q. Zhao, E.F. Kirkness, O.L. Caballero Systematic detection of putative tumor suppressor genes through the combined use of exome and transcriptome sequencing Genome Biol 11 2010 R114
    • (2010) Genome Biol , vol.11 , pp. 114
    • Zhao, Q.1    Kirkness, E.F.2    Caballero, O.L.3
  • 11
    • 78649297854 scopus 로고    scopus 로고
    • Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
    • J.K. Teer, L.L. Bonnycastle, P.S. Chines Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing Genome Res 20 2010 1420 1431
    • (2010) Genome Res , vol.20 , pp. 1420-1431
    • Teer, J.K.1    Bonnycastle, L.L.2    Chines, P.S.3
  • 13
    • 59849113821 scopus 로고    scopus 로고
    • Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
    • A. Gnirke, A. Melnikov, J. Maguire Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing Nat Biotechnol 27 2009 182 189
    • (2009) Nat Biotechnol , vol.27 , pp. 182-189
    • Gnirke, A.1    Melnikov, A.2    Maguire, J.3
  • 14
    • 77950299929 scopus 로고    scopus 로고
    • PHF6 mutations in T-cell acute lymphoblastic leukemia
    • V.P. Van, T. Palomero, H. Khiabanian PHF6 mutations in T-cell acute lymphoblastic leukemia Nat Genet 42 2010 338 342
    • (2010) Nat Genet , vol.42 , pp. 338-342
    • Van, V.P.1    Palomero, T.2    Khiabanian, H.3
  • 15
    • 79954442305 scopus 로고    scopus 로고
    • Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single procedure
    • V. Grossmann, A. Kohlmann, H.U. Klein Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single procedure Leukemia 25 2011 671 680
    • (2011) Leukemia , vol.25 , pp. 671-680
    • Grossmann, V.1    Kohlmann, A.2    Klein, H.U.3
  • 16
    • 77955439715 scopus 로고    scopus 로고
    • Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    • T. Walsh, M.K. Lee, S. Casadei Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing Proc Natl Acad Sci U S A 107 2010 12629 12633
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 12629-12633
    • Walsh, T.1    Lee, M.K.2    Casadei, S.3
  • 18
    • 52949096084 scopus 로고    scopus 로고
    • Next-generation DNA sequencing methods
    • E.R. Mardis Next-generation DNA sequencing methods Annu Rev Genomics Hum Genet 9 2008 387 402
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 387-402
    • Mardis, E.R.1
  • 21
    • 77956237515 scopus 로고    scopus 로고
    • Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1
    • A. Kohlmann, V. Grossmann, H.U. Klein Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1 J Clin Oncol 28 2010 3858 3865
    • (2010) J Clin Oncol , vol.28 , pp. 3858-3865
    • Kohlmann, A.1    Grossmann, V.2    Klein, H.U.3
  • 22
    • 79952254129 scopus 로고    scopus 로고
    • Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology
    • V. Grossmann, S. Schnittger, S. Schindela Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology J Mol Diagn 13 2011 129 136
    • (2011) J Mol Diagn , vol.13 , pp. 129-136
    • Grossmann, V.1    Schnittger, S.2    Schindela, S.3
  • 23
    • 79956291339 scopus 로고    scopus 로고
    • TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression
    • M. Jadersten, L. Saft, A. Smith TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression J Clin Oncol 29 2011 1971 1979
    • (2011) J Clin Oncol , vol.29 , pp. 1971-1979
    • Jadersten, M.1    Saft, L.2    Smith, A.3
  • 24
    • 66249137734 scopus 로고    scopus 로고
    • Mutation in TET2 in myeloid cancers
    • F. Delhommeau, S. Dupont, V. Della Mutation in TET2 in myeloid cancers N Engl J Med 360 2009 2289 2301
    • (2009) N Engl J Med , vol.360 , pp. 2289-2301
    • Delhommeau, F.1    Dupont, S.2    Della, V.3
  • 25
    • 78650175023 scopus 로고    scopus 로고
    • Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2
    • M. Ko, Y. Huang, A.M. Jankowska Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2 Nature 468 2010 839 843
    • (2010) Nature , vol.468 , pp. 839-843
    • Ko, M.1    Huang, Y.2    Jankowska, A.M.3
  • 26
    • 77955085750 scopus 로고    scopus 로고
    • Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
    • T. Ernst, A.J. Chase, J. Score Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders Nat Genet 42 2010 722 726
    • (2010) Nat Genet , vol.42 , pp. 722-726
    • Ernst, T.1    Chase, A.J.2    Score, J.3
  • 27
    • 77955087290 scopus 로고    scopus 로고
    • Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes
    • G. Nikoloski, S.M. Langemeijer, R.P. Kuiper Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes Nat Genet 42 2010 665 667
    • (2010) Nat Genet , vol.42 , pp. 665-667
    • Nikoloski, G.1    Langemeijer, S.M.2    Kuiper, R.P.3
  • 28
    • 66849124925 scopus 로고    scopus 로고
    • Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia
    • V. Gelsi-Boyer, V. Trouplin, J. Adelaide Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia Br J Haematol 145 2009 788 800
    • (2009) Br J Haematol , vol.145 , pp. 788-800
    • Gelsi-Boyer, V.1    Trouplin, V.2    Adelaide, J.3
  • 29
    • 0026505197 scopus 로고
    • Somatic mutations in the neurofibromatosis 1 gene in human tumors
    • Y. Li, G. Bollag, R. Clark Somatic mutations in the neurofibromatosis 1 gene in human tumors Cell 69 1992 275 281
    • (1992) Cell , vol.69 , pp. 275-281
    • Li, Y.1    Bollag, G.2    Clark, R.3
  • 30
    • 67650770689 scopus 로고    scopus 로고
    • The molecular biology of mixed lineage leukemia
    • R.K. Slany The molecular biology of mixed lineage leukemia Haematologica 94 2009 984 993
    • (2009) Haematologica , vol.94 , pp. 984-993
    • Slany, R.K.1
  • 31
    • 79959794787 scopus 로고    scopus 로고
    • Clinical effect of point mutations in myelodysplastic syndromes
    • R. Bejar, K. Stevenson, O. Abdel-Wahab Clinical effect of point mutations in myelodysplastic syndromes N Engl J Med 364 2011 2496 2506
    • (2011) N Engl J Med , vol.364 , pp. 2496-2506
    • Bejar, R.1    Stevenson, K.2    Abdel-Wahab, O.3
  • 32
    • 79959293462 scopus 로고    scopus 로고
    • BRAF mutations in hairy-cell leukemia
    • E. Tiacci, V. Trifonov, G. Schiavoni BRAF mutations in hairy-cell leukemia N Engl J Med 364 2011 2305 2315
    • (2011) N Engl J Med , vol.364 , pp. 2305-2315
    • Tiacci, E.1    Trifonov, V.2    Schiavoni, G.3
  • 33
    • 79551504914 scopus 로고    scopus 로고
    • TP53 mutation and survival in chronic lymphocytic leukemia
    • T. Zenz, B. Eichhorst, R. Busch TP53 mutation and survival in chronic lymphocytic leukemia J Clin Oncol 28 2010 4473 4479
    • (2010) J Clin Oncol , vol.28 , pp. 4473-4479
    • Zenz, T.1    Eichhorst, B.2    Busch, R.3
  • 34
    • 83555166249 scopus 로고    scopus 로고
    • The Interlaboratory RObustness of Next-generation sequencing (IRON) study: A deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories
    • A. Kohlmann, H.U. Klein, S. Weissmann The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories Leukemia 25 2011 1840 1848
    • (2011) Leukemia , vol.25 , pp. 1840-1848
    • Kohlmann, A.1    Klein, H.U.2    Weissmann, S.3
  • 35
    • 77956792326 scopus 로고    scopus 로고
    • Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: A paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology
    • K.V. Voelkerding, S. Dames, J.D. Durtschi Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology J Mol Diagn 12 2010 539 551
    • (2010) J Mol Diagn , vol.12 , pp. 539-551
    • Voelkerding, K.V.1    Dames, S.2    Durtschi, J.D.3
  • 36
    • 0028820187 scopus 로고
    • Solid-phase reversible immobilization for the isolation of PCR products
    • M.M. DeAngelis, D.G. Wang, T.L. Hawkins Solid-phase reversible immobilization for the isolation of PCR products Nucleic Acids Res 23 1995 4742 4743 (Pubitemid 126003282)
    • (1995) Applied Nursing Research , vol.8 , Issue.4 , pp. 4742-4743
    • DeAngelis, M.M.1    Wang, D.G.2    Hawkins, T.L.3
  • 37
    • 79954500887 scopus 로고    scopus 로고
    • R453Plus1Toolbox: An R/Bioconductor package for analyzing Roche 454 Sequencing data
    • H.U. Klein, C. Bartenhagen, A. Kohlmann R453Plus1Toolbox: an R/Bioconductor package for analyzing Roche 454 Sequencing data Bioinformatics 27 2011 1162 1163
    • (2011) Bioinformatics , vol.27 , pp. 1162-1163
    • Klein, H.U.1    Bartenhagen, C.2    Kohlmann, A.3
  • 38
    • 78651310799 scopus 로고    scopus 로고
    • Database resources of the National Center for Biotechnology Information
    • E.W. Sayers, T. Barrett, D.A. Benson Database resources of the National Center for Biotechnology Information Nucleic Acids Res 39 2011 D38 D51
    • (2011) Nucleic Acids Res , vol.39
    • Sayers, E.W.1    Barrett, T.2    Benson, D.A.3
  • 40
    • 77955402078 scopus 로고    scopus 로고
    • Dynamics of HIV-1 quasispecies during antiviral treatment dissected using ultra-deep pyrosequencing
    • C. Hedskog, M. Mild, J. Jernberg Dynamics of HIV-1 quasispecies during antiviral treatment dissected using ultra-deep pyrosequencing PLoS One 5 2010 e11345
    • (2010) PLoS One , vol.5 , pp. 11345
    • Hedskog, C.1    Mild, M.2    Jernberg, J.3
  • 41
    • 77955715121 scopus 로고    scopus 로고
    • Mutation analysis for RUNX1, MLL-PTD, FLT3-ITD, NPM1 and NRAS in 269 patients with MDS or secondary AML
    • F. Dicker, C. Haferlach, J. Sundermann Mutation analysis for RUNX1, MLL-PTD, FLT3-ITD, NPM1 and NRAS in 269 patients with MDS or secondary AML Leukemia 24 2010 1528 1532
    • (2010) Leukemia , vol.24 , pp. 1528-1532
    • Dicker, F.1    Haferlach, C.2    Sundermann, J.3
  • 42
    • 79952134550 scopus 로고    scopus 로고
    • RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis
    • S. Schnittger, F. Dicker, W. Kern RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis Blood 117 2011 2348 2357
    • (2011) Blood , vol.117 , pp. 2348-2357
    • Schnittger, S.1    Dicker, F.2    Kern, W.3
  • 43
    • 83555160609 scopus 로고    scopus 로고
    • Ultra-deep next-generation sequencing detects RUNX1 mutations with unprecedented sensitivity and allows to monitor minimal residual disease in 116 samples from MDS and AML patients
    • A. Kohlmann, V. Grossmann, S. Schindela Ultra-deep next-generation sequencing detects RUNX1 mutations with unprecedented sensitivity and allows to monitor minimal residual disease in 116 samples from MDS and AML patients Blood 116 2010 1691a
    • (2010) Blood , vol.116
    • Kohlmann, A.1    Grossmann, V.2    Schindela, S.3
  • 44
    • 33751234537 scopus 로고    scopus 로고
    • Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E [11]
    • DOI 10.1038/sj.leu.2404325, PII 2404325
    • S. Schnittger, U. Bacher, W. Kern, M. Schroder, T. Haferlach, C. Schoch Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E Leukemia 20 2006 2195 2197 (Pubitemid 44782853)
    • (2006) Leukemia , vol.20 , Issue.12 , pp. 2195-2197
    • Schnittger, S.1    Bacher, U.2    Kern, W.3    Schroder, M.4    Haferlach, T.5    Schoch, C.6
  • 45
    • 69849110150 scopus 로고    scopus 로고
    • Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome
    • A.M. Mohamedali, A.E. Smith, J. Gaken Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome J Clin Oncol 27 2009 4002 4006
    • (2009) J Clin Oncol , vol.27 , pp. 4002-4006
    • Mohamedali, A.M.1    Smith, A.E.2    Gaken, J.3
  • 46
    • 78149454504 scopus 로고    scopus 로고
    • Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value
    • A.E. Smith, A.M. Mohamedali, A. Kulasekararaj Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value Blood 116 2010 3923 3932
    • (2010) Blood , vol.116 , pp. 3923-3932
    • Smith, A.E.1    Mohamedali, A.M.2    Kulasekararaj, A.3
  • 47
    • 79960036578 scopus 로고    scopus 로고
    • Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
    • X.S. Puente, M. Pinyol, V. Quesada Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia Nature 475 2011 101 105
    • (2011) Nature , vol.475 , pp. 101-105
    • Puente, X.S.1    Pinyol, M.2    Quesada, V.3
  • 48
    • 79951494668 scopus 로고    scopus 로고
    • Initial genome sequencing and analysis of multiple myeloma
    • M.A. Chapman, M.S. Lawrence, J.J. Keats Initial genome sequencing and analysis of multiple myeloma Nature 471 2011 467 472
    • (2011) Nature , vol.471 , pp. 467-472
    • Chapman, M.A.1    Lawrence, M.S.2    Keats, J.J.3


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