메뉴 건너뛰기




Volumn 16, Issue 4, 2016, Pages 461-472

Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms in a CLIA-certified laboratory

Author keywords

clinical laboratory; hematologic malignancies; mutation; next generation sequencing; validation

Indexed keywords

ANALYTIC METHOD; CANCER DIAGNOSIS; CERTIFICATION; GENE MUTATION; HEMATOLOGIC MALIGNANCY; HUMAN; LABORATORY; NEXT GENERATION SEQUENCING; PRACTICE GUIDELINE; REVIEW; STANDARDIZATION; VALIDATION PROCESS; DNA SEQUENCE; GENETICS; HEMATOLOGIC NEOPLASMS; HIGH THROUGHPUT SEQUENCING; MOLECULAR DIAGNOSIS; MUTATION; STANDARDS; VALIDATION STUDY;

EID: 84958051301     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2016.1142374     Document Type: Review
Times cited : (30)

References (74)
  • 1
    • 78649906060 scopus 로고    scopus 로고
    • DNMT3A mutations in acute myeloid leukemia
    • Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010; 363 (25): 2424-2433.
    • (2010) N Engl J Med , vol.363 , Issue.25 , pp. 2424-2433
    • Ley, T.J.1    Ding, L.2    Walter, M.J.3
  • 2
    • 84878372012 scopus 로고    scopus 로고
    • Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
    • Cancer Genome Atlas Research N
    • Cancer Genome Atlas Research N. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013; 368 (22): 2059-2074.
    • (2013) N Engl J Med , vol.368 , Issue.22 , pp. 2059-2074
  • 3
    • 80053900941 scopus 로고    scopus 로고
    • Frequent pathway mutationsof splicing machinery in myelodysplasia
    • Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutationsof splicing machinery in myelodysplasia. Nature. 2011; 478 (7367): 64-69.
    • (2011) Nature , vol.478 , Issue.7367 , pp. 64-69
    • Yoshida, K.1    Sanada, M.2    Shiraishi, Y.3
  • 4
    • 84877608004 scopus 로고    scopus 로고
    • Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML
    • Maxson JE, Gotlib J, Pollyea DA, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med. 2013; 368 (19): 1781-1790.
    • (2013) N Engl J Med , vol.368 , Issue.19 , pp. 1781-1790
    • Maxson, J.E.1    Gotlib, J.2    Pollyea, D.A.3
  • 5
    • 79960036578 scopus 로고    scopus 로고
    • Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
    • Puente XS, Pinyol M, Quesada V, et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature. 2011; 475 (7354): 101-105.
    • (2011) Nature , vol.475 , Issue.7354 , pp. 101-105
    • Puente, X.S.1    Pinyol, M.2    Quesada, V.3
  • 6
    • 84865475885 scopus 로고    scopus 로고
    • MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia
    • Treon SP, Xu L, Yang G, et al. MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. N Engl J Med. 2012; 367 (9): 826-833.
    • (2012) N Engl J Med , vol.367 , Issue.9 , pp. 826-833
    • Treon, S.P.1    Xu, L.2    Yang, G.3
  • 7
    • 79959293462 scopus 로고    scopus 로고
    • BRAF mutations in hairy-cell leukemia
    • Tiacci E, Trifonov V, Schiavoni G, et al. BRAF mutations in hairy-cell leukemia. N Engl J Med. 2011; 364 (24): 2305-2315.
    • (2011) N Engl J Med , vol.364 , Issue.24 , pp. 2305-2315
    • Tiacci, E.1    Trifonov, V.2    Schiavoni, G.3
  • 8
    • 84888219405 scopus 로고    scopus 로고
    • Clinical and biological implications of driver mutations in myelodysplastic syndromes
    • quiz 3699
    • Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013; 122 (22): 3616-3627. quiz 3699.
    • (2013) Blood , vol.122 , Issue.22 , pp. 3616-3627
    • Papaemmanuil, E.1    Gerstung, M.2    Malcovati, L.3
  • 9
    • 79951475133 scopus 로고    scopus 로고
    • A decade's perspective on DNA sequencing technology
    • Mardis ER. A decade's perspective on DNA sequencing technology. Nature. 2011; 470 (7333): 198-203.
    • (2011) Nature , vol.470 , Issue.7333 , pp. 198-203
    • Mardis, E.R.1
  • 10
    • 84880900798 scopus 로고    scopus 로고
    • Lessons from next-generation sequencing analysis in hematological malignancies
    • Braggio E, Egan JB, Fonseca R, et al. Lessons from next-generation sequencing analysis in hematological malignancies. Blood Cancer J. 2013; 3: e127.
    • (2013) Blood Cancer J , vol.3 , pp. e127
    • Braggio, E.1    Egan, J.B.2    Fonseca, R.3
  • 11
    • 84869429716 scopus 로고    scopus 로고
    • Assuring the quality of nextgeneration sequencing in clinical laboratory practice
    • Gargis AS, Kalman L, Berry MW, et al. Assuring the quality of nextgeneration sequencing in clinical laboratory practice. Nat Biotechnol. 2012; 30 (11): 1033-1036.
    • (2012) Nat Biotechnol , vol.30 , Issue.11 , pp. 1033-1036
    • Gargis, A.S.1    Kalman, L.2    Berry, M.W.3
  • 12
    • 84926314484 scopus 로고    scopus 로고
    • College of American Pathologists' laboratory standards for next-generation sequencing clinical tests
    • Aziz N, Zhao Q, Bry L, et al. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med. 2015; 139 (4): 481-493.
    • (2015) Arch Pathol Lab Med , vol.139 , Issue.4 , pp. 481-493
    • Aziz, N.1    Zhao, Q.2    Bry, L.3
  • 13
    • 84883897500 scopus 로고    scopus 로고
    • ACMG clinical laboratory standards for next-generation sequencing
    • Rehm HL, Bale SJ, Bayrak-Toydemir P, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013; 15 (9): 733-747.
    • (2013) Genet Med , vol.15 , Issue.9 , pp. 733-747
    • Rehm, H.L.1    Bale, S.J.2    Bayrak-Toydemir, P.3
  • 14
    • 84933558109 scopus 로고    scopus 로고
    • Targeted ultradeep next-generation sequencing as a method for KIT D816V mutation analysis in mastocytosis
    • Jun 10
    • Kristensen T, Broesby-Olsen S, Vestergaard H, et al. Targeted ultradeep next-generation sequencing as a method for KIT D816V mutation analysis in mastocytosis. Eur J Haematol. 2015 Jun 10 DOI: 10.1111/ejh.12601.
    • (2015) Eur J Haematol
    • Kristensen, T.1    Broesby-Olsen, S.2    Vestergaard, H.3
  • 15
    • 84895770396 scopus 로고    scopus 로고
    • Next-generation sequencingbased multigene mutational screening for acute myeloid leukemia using MiSeq: Applicability for diagnostics and disease monitoring
    • Luthra R, Patel KP, Reddy NG, et al. Next-generation sequencingbased multigene mutational screening for acute myeloid leukemia using MiSeq: applicability for diagnostics and disease monitoring. Haematologica. 2014; 99 (3): 465-473.
    • (2014) Haematologica , vol.99 , Issue.3 , pp. 465-473
    • Luthra, R.1    Patel, K.P.2    Reddy, N.G.3
  • 16
    • 84890409823 scopus 로고    scopus 로고
    • Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens
    • Pritchard CC, Salipante SJ, Koehler K, et al. Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. J Mol Diagn. 2014; 16 (1): 56-67.
    • (2014) J Mol Diagn , vol.16 , Issue.1 , pp. 56-67
    • Pritchard, C.C.1    Salipante, S.J.2    Koehler, K.3
  • 17
    • 84925447968 scopus 로고    scopus 로고
    • Next-generation sequencing in clinical oncology: Next steps towards clinical validation
    • Bennett NC, Farah CS. Next-generation sequencing in clinical oncology: next steps towards clinical validation. Cancers (Basel). 2014; 6 (4): 2296-2312.
    • (2014) Cancers (Basel) , vol.6 , Issue.4 , pp. 2296-2312
    • Bennett, N.C.1    Farah, C.S.2
  • 18
    • 84898488422 scopus 로고    scopus 로고
    • Chronic myelomonocytic leukaemia: A concise clinical and pathophysiological review
    • Patnaik MM, Parikh SA, Hanson CA, et al. Chronic myelomonocytic leukaemia: a concise clinical and pathophysiological review. Br J Haematol. 2014; 165 (3): 273-286.
    • (2014) Br J Haematol , vol.165 , Issue.3 , pp. 273-286
    • Patnaik, M.M.1    Parikh, S.A.2    Hanson, C.A.3
  • 19
    • 84859856420 scopus 로고    scopus 로고
    • Frequency and prognostic impact of mutations in SRSF2 U2AF1 and ZRSR2 in patients with myelodysplastic syndromes
    • Thol F, Kade S, Schlarmann C, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood. 2012; 119 (15): 3578-3584.
    • (2012) Blood , vol.119 , Issue.15 , pp. 3578-3584
    • Thol, F.1    Kade, S.2    Schlarmann, C.3
  • 20
    • 84891301466 scopus 로고    scopus 로고
    • The genetic basis of myelodysplasia and its clinical relevance
    • Cazzola M, Della Porta MG, Malcovati L. The genetic basis of myelodysplasia and its clinical relevance. Blood. 2013; 122 (25): 4021-4034.
    • (2013) Blood , vol.122 , Issue.25 , pp. 4021-4034
    • Cazzola, M.1    Della Porta, M.G.2    Malcovati, L.3
  • 22
    • 84904760463 scopus 로고    scopus 로고
    • Prognostic significance of FLT3 internal tandem duplication, nucleophosmin 1, and CEBPA gene mutations for acute myeloid leukemia patients with normal karyotype and younger than 60 years: A systematic review and metaanalysis
    • Port M, Bottcher M, Thol F, et al. Prognostic significance of FLT3 internal tandem duplication, nucleophosmin 1, and CEBPA gene mutations for acute myeloid leukemia patients with normal karyotype and younger than 60 years: a systematic review and metaanalysis. Ann Hematol. 2014; 93 (8): 1279-1286.
    • (2014) Ann Hematol , vol.93 , Issue.8 , pp. 1279-1286
    • Port, M.1    Bottcher, M.2    Thol, F.3
  • 23
    • 77954921625 scopus 로고    scopus 로고
    • Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia: Impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations
    • Green CL, Koo KK, Hills RK, et al. Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia: impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations. J Clin Oncol. 2010; 28 (16): 2739-2747.
    • (2010) J Clin Oncol , vol.28 , Issue.16 , pp. 2739-2747
    • Green, C.L.1    Koo, K.K.2    Hills, R.K.3
  • 24
    • 74049158596 scopus 로고    scopus 로고
    • Acute myeloid leukemia with mutated NPM1: Diagnosis, prognosis and therapeutic perspectives
    • Falini B, Sportoletti P, Martelli MP. Acute myeloid leukemia with mutated NPM1: diagnosis, prognosis and therapeutic perspectives. Curr Opin Oncol. 2009; 21 (6): 573-581.
    • (2009) Curr Opin Oncol , vol.21 , Issue.6 , pp. 573-581
    • Falini, B.1    Sportoletti, P.2    Martelli, M.P.3
  • 25
    • 84863393263 scopus 로고    scopus 로고
    • Prognostic relevance of integrated genetic profiling in acute myeloid leukemia
    • Patel JP, Gonen M, Figueroa ME, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 2012; 366 (12): 1079-1089.
    • (2012) N Engl J Med , vol.366 , Issue.12 , pp. 1079-1089
    • Patel, J.P.1    Gonen, M.2    Figueroa, M.E.3
  • 26
    • 84867806184 scopus 로고    scopus 로고
    • A novel hierarchical prognostic model of AML solely based on molecular mutations
    • Grossmann V, Schnittger S, Kohlmann A, et al. A novel hierarchical prognostic model of AML solely based on molecular mutations. Blood. 2012; 120 (15): 2963-2972.
    • (2012) Blood , vol.120 , Issue.15 , pp. 2963-2972
    • Grossmann, V.1    Schnittger, S.2    Kohlmann, A.3
  • 27
    • 84862502902 scopus 로고    scopus 로고
    • Mutant DNMT3A: A marker of poor prognosis in acute myeloid leukemia
    • Ribeiro AF, Pratcorona M, Erpelinck-Verschueren C, et al. Mutant DNMT3A: a marker of poor prognosis in acute myeloid leukemia. Blood. 2012; 119 (24): 5824-5831.
    • (2012) Blood , vol.119 , Issue.24 , pp. 5824-5831
    • Ribeiro, A.F.1    Pratcorona, M.2    Erpelinck-Verschueren, C.3
  • 28
    • 79960255863 scopus 로고    scopus 로고
    • Recurrent DNMT3A mutations in patients with myelodysplastic syndromes
    • Walter MJ, Ding L, Shen D, et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia. 2011; 25 (7): 1153-1158.
    • (2011) Leukemia , vol.25 , Issue.7 , pp. 1153-1158
    • Walter, M.J.1    Ding, L.2    Shen, D.3
  • 29
    • 84961554506 scopus 로고    scopus 로고
    • Acute myeloid leukemia ontogeny is defined by distinct somatic mutations
    • Lindsley RC, Mar BG, Mazzola E, et al. Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood. 2015; 125 (9): 1367-1376.
    • (2015) Blood , vol.125 , Issue.9 , pp. 1367-1376
    • Lindsley, R.C.1    Mar, B.G.2    Mazzola, E.3
  • 30
    • 66849106721 scopus 로고    scopus 로고
    • Using germline genotype in cancer pharmacogenetic studies
    • McWhinney SR, McLeod HL. Using germline genotype in cancer pharmacogenetic studies. Pharmacogenomics. 2009; 10 (3): 489-493.
    • (2009) Pharmacogenomics , vol.10 , Issue.3 , pp. 489-493
    • McWhinney, S.R.1    McLeod, H.L.2
  • 31
    • 84965181241 scopus 로고    scopus 로고
    • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY challenge
    • Brownstein CA, Beggs AH, Homer N, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY challenge. Genome Biol. 2014; 15 (3): R53.
    • (2014) Genome Biol , vol.15 , Issue.3 , pp. R53
    • Brownstein, C.A.1    Beggs, A.H.2    Homer, N.3
  • 32
    • 84993710024 scopus 로고    scopus 로고
    • Recognizing familial myeloid leukemia in adults
    • Nickels EM, Soodalter J, Churpek JE, et al. Recognizing familial myeloid leukemia in adults. Ther Adv Hematol. 2013; 4 (4): 254-269.
    • (2013) Ther Adv Hematol , vol.4 , Issue.4 , pp. 254-269
    • Nickels, E.M.1    Soodalter, J.2    Churpek, J.E.3
  • 33
    • 84884533101 scopus 로고    scopus 로고
    • Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories
    • Weiss MM, Van Der Zwaag B, Jongbloed JDH, et al. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories. Human Mutation. 2013; 34 (10): 1313-1321.
    • (2013) Human Mutation , vol.34 , Issue.10 , pp. 1313-1321
    • Weiss, M.M.1    Van Der Zwaag, B.2    Jdh, J.3
  • 34
    • 84898799628 scopus 로고    scopus 로고
    • Methods-based proficiency testing in molecular genetic pathology
    • Schrijver I, Aziz N, Jennings LJ, et al. Methods-based proficiency testing in molecular genetic pathology. J Mol Diagn. 2014; 16 (3): 283-287.
    • (2014) J Mol Diagn , vol.16 , Issue.3 , pp. 283-287
    • Schrijver, I.1    Aziz, N.2    Jennings, L.J.3
  • 35
    • 84961964966 scopus 로고    scopus 로고
    • Phase 1/2 dose-escalation safety clinical activity pharmacokinetic and pharmacodynamic study of the ERK1/2 inhibitor BVD-523 in patients with acute myelogenous leukemia or myelodysplastic syndromes
    • BioMed Valley Discoveries Inc Bethesda (MD): National Library of Medicine (US) 2000-[cited 2015 Dec 26]
    • BioMed Valley Discoveries, Inc. Phase 1/2 dose-escalation, safety, clinical activity, pharmacokinetic and pharmacodynamic study of the ERK1/2 inhibitor BVD-523 in patients with acute myelogenous leukemia or myelodysplastic syndromes. In: ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). 2000- [cited 2015 Dec 26]. Available from: https://clinicaltrials.gov/ct2/show/NCT02296242. NLM Identifier: NCT02296242.
    • ClinicalTrials.gov [Internet]
  • 36
    • 84961959967 scopus 로고    scopus 로고
    • A phase 2 study of MEK 1/2 inhibitor trametinib in combination with AKT inhibitor GSK2141795 in acute myeloid leukemia (AML) with RAS mutations
    • National Cancer Institute (NCI) Bethesda (MD): National Library of Medicine (US) 2000- [cited 2015 Dec 26]
    • National Cancer Institute (NCI. A phase 2 study of MEK 1/2 inhibitor trametinib in combination with AKT inhibitor GSK2141795 in acute myeloid leukemia (AML) with RAS mutations. In: ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US. 2000- [cited 2015 Dec 26]. Available from: https://clinicaltrials.gov/ct2/show/NCT01907815. NLM Identifier: NCT01907815.)
    • ClinicalTrials.gov [Internet]
  • 37
    • 84961964971 scopus 로고    scopus 로고
    • Phase I/II trial of MEK inhibitor MEK162 in patients with relapsed and or refractory acute myeloid leukemia and patients with poor prognosis acute myeloid leukemia not suitable for or unwilling to receive standard therapy
    • M.D. Anderson Cancer Center Bethesda (MD): National Library of Medicine (US) 2000-[cited 2015 Dec 26]
    • M.D. Anderson Cancer Center. Phase I/II trial of MEK inhibitor MEK162 in patients with relapsed and or refractory acute myeloid leukemia and patients with poor prognosis acute myeloid leukemia not suitable for or unwilling to receive standard therapy. In: ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). 2000- [cited 2015 Dec 26]. Available from: https://clinicaltrials.gov/ct2/show/NCT02089230. NLM Identifier: NCT02089230.)
    • ClinicalTrials.gov [Internet]
  • 38
    • 84963952136 scopus 로고    scopus 로고
    • A clinical grade sequencing-based assay for CEBPA mutation testing: Report of a large series of myeloid neoplasms
    • Behdad A, Weigelin HC, Elenitoba-Johnson KS, et al. A clinical grade sequencing-based assay for CEBPA mutation testing: report of a large series of myeloid neoplasms. J Mol Diagn. 2015; 17 (1): 76-84.
    • (2015) J Mol Diagn , vol.17 , Issue.1 , pp. 76-84
    • Behdad, A.1    Weigelin, H.C.2    Elenitoba-Johnson, K.S.3
  • 39
    • 39449089394 scopus 로고    scopus 로고
    • Parallel tagged sequencing on the 454 platform
    • Meyer M, Stenzel U, Hofreiter M. Parallel tagged sequencing on the 454 platform. Nat Protoc. 2008; 3 (2): 267-278.
    • (2008) Nat Protoc , vol.3 , Issue.2 , pp. 267-278
    • Meyer, M.1    Stenzel, U.2    Hofreiter, M.3
  • 40
    • 79953826567 scopus 로고    scopus 로고
    • Next-generation sequencing and its applications in molecular diagnostics
    • Su Z, Ning B, Fang H, et al. Next-generation sequencing and its applications in molecular diagnostics. Expert Rev Mol Diagn. 2011; 11 (3): 333-343.
    • (2011) Expert Rev Mol Diagn , vol.11 , Issue.3 , pp. 333-343
    • Su, Z.1    Ning, B.2    Fang, H.3
  • 41
    • 64149123778 scopus 로고    scopus 로고
    • Next-generation sequencing: From basic research to diagnostics
    • Voelkerding KV, Dames SA, Durtschi JD. Next-generation sequencing: from basic research to diagnostics. Clin Chem. 2009; 55 (4): 641-658.
    • (2009) Clin Chem , vol.55 , Issue.4 , pp. 641-658
    • Voelkerding, K.V.1    Dames, S.A.2    Durtschi, J.D.3
  • 42
    • 84901014138 scopus 로고    scopus 로고
    • Navigating the rapids: The development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics
    • Pant S, Weiner R, Marton MJ. Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics. Front Oncol. 2014; 4: 78.
    • (2014) Front Oncol , vol.4 , pp. 78
    • Pant, S.1    Weiner, R.2    Marton, M.J.3
  • 43
    • 84876933570 scopus 로고    scopus 로고
    • Shining a light on dark sequencing: Characterising errors in Ion Torrent PGM data
    • Bragg LM, Stone G, Butler MK, et al. Shining a light on dark sequencing: characterising errors in Ion Torrent PGM data. PLoS Comput Biol. 2013; 9 (4): e1003031.
    • (2013) PLoS Comput Biol , vol.9 , Issue.4 , pp. e1003031
    • Bragg, L.M.1    Stone, G.2    Butler, M.K.3
  • 44
    • 84859749487 scopus 로고    scopus 로고
    • Analysis of context-dependent errors for illumina sequencing
    • Abnizova I, Leonard S, Skelly T, et al. Analysis of context-dependent errors for illumina sequencing. J Bioinform Comput Biol. 2012; 10 (2): 1241005.
    • (2012) J Bioinform Comput Biol , vol.10 , Issue.2 , pp. 1241005
    • Abnizova, I.1    Leonard, S.2    Skelly, T.3
  • 45
    • 84900390825 scopus 로고    scopus 로고
    • Comprehensive analysis to improve the validation rate for single nucleotide variants detected by nextgeneration sequencing
    • Park MH, Rhee H, Park JH, et al. Comprehensive analysis to improve the validation rate for single nucleotide variants detected by nextgeneration sequencing. PLoS One. 2014; 9 (1): e86664.
    • (2014) PLoS One , vol.9 , Issue.1 , pp. e86664
    • Park, M.H.1    Rhee, H.2    Park, J.H.3
  • 46
    • 84905858372 scopus 로고    scopus 로고
    • Next-generation sequencing: A change of paradigm in molecular diagnostic validation
    • Salto-Tellez M. Gonzalez de Castro D. Next-generation sequencing: a change of paradigm in molecular diagnostic validation. J Pathol. 2014; 234 (1): 5-10.
    • (2014) J Pathol , vol.234 , Issue.1 , pp. 5-10
    • Salto-Tellez, M.1    De Gonzalez Castro, D.2
  • 47
    • 77954380684 scopus 로고    scopus 로고
    • Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: Diagnostic and clinical implications
    • Tsiatis AC, Norris-Kirby A, Rich RG, et al. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn. 2010; 12 (4): 425-432.
    • (2010) J Mol Diagn , vol.12 , Issue.4 , pp. 425-432
    • Tsiatis, A.C.1    Norris-Kirby, A.2    Rich, R.G.3
  • 48
    • 84878722729 scopus 로고    scopus 로고
    • Comparing somatic mutation-callers: Beyond Venn diagrams
    • Kim SY, Speed TP. Comparing somatic mutation-callers: beyond Venn diagrams. BMC Bioinformatics. 2013; 14: 189.
    • (2013) BMC Bioinformatics , vol.14 , pp. 189
    • Kim, S.Y.1    Speed, T.P.2
  • 49
    • 84907067643 scopus 로고    scopus 로고
    • Expanding the computational toolbox for mining cancer genomes
    • Ding L, Wendl MC, McMichael JF, et al. Expanding the computational toolbox for mining cancer genomes. Nat Rev Genet. 2014; 15 (8): 556-570.
    • (2014) Nat Rev Genet , vol.15 , Issue.8 , pp. 556-570
    • Ding, L.1    Wendl, M.C.2    McMichael, J.F.3
  • 50
    • 84885356115 scopus 로고    scopus 로고
    • A simple consensus approach improves somatic mutation prediction accuracy
    • Goode DL, Hunter SM, Doyle MA, et al. A simple consensus approach improves somatic mutation prediction accuracy. Genome Med. 2013; 5 (9): 90.
    • (2013) Genome Med , vol.5 , Issue.9 , pp. 90
    • Goode, D.L.1    Hunter, S.M.2    Doyle, M.A.3
  • 51
    • 79953685152 scopus 로고    scopus 로고
    • The impact of next-generation sequencing on genomics
    • Zhang J, Chiodini R, Badr A, et al. The impact of next-generation sequencing on genomics. J Genet Genomics. 2011; 38 (3): 95-109.
    • (2011) J Genet Genomics , vol.38 , Issue.3 , pp. 95-109
    • Zhang, J.1    Chiodini, R.2    Badr, A.3
  • 52
    • 78049390272 scopus 로고    scopus 로고
    • Evaluation of secondgeneration sequencing of 19 dilated cardiomyopathy genes for clinical applications
    • Gowrisankar S, Lerner-Ellis JP, Cox S, et al. Evaluation of secondgeneration sequencing of 19 dilated cardiomyopathy genes for clinical applications. J Mol Diagn. 2010; 12 (6): 818-827.
    • (2010) J Mol Diagn , vol.12 , Issue.6 , pp. 818-827
    • Gowrisankar, S.1    Lerner-Ellis, J.P.2    Cox, S.3
  • 53
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • Ye K, Schulz MH, Long Q, et al. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics. 2009; 25 (21): 2865-2871.
    • (2009) Bioinformatics , vol.25 , Issue.21 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3
  • 54
    • 73449142861 scopus 로고    scopus 로고
    • DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: Neurofibromatosis type 1 gene as a model
    • Chou LS, Liu CS, Boese B, et al. DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model. Clin Chem. 2010; 56 (1): 62-72.
    • (2010) Clin Chem , vol.56 , Issue.1 , pp. 62-72
    • Chou, L.S.1    Liu, C.S.2    Boese, B.3
  • 55
    • 84883492771 scopus 로고    scopus 로고
    • Kraken: A set of tools for quality control and analysis of high-throughput sequence data
    • Davis MP, Van Dongen S, Abreu-Goodger C, et al. Kraken: a set of tools for quality control and analysis of high-throughput sequence data. Methods. 2013; 63 (1): 41-49.
    • (2013) Methods , vol.63 , Issue.1 , pp. 41-49
    • Davis, M.P.1    Van Dongen, S.2    Abreu-Goodger, C.3
  • 56
    • 84931397162 scopus 로고    scopus 로고
    • Annotation of sequence variants in cancer samples: Processes and pitfalls for routine assays in the clinical laboratory
    • Lee LA, Arvai KJ, Jones D. Annotation of sequence variants in cancer samples: processes and pitfalls for routine assays in the clinical laboratory. J Mol Diagn. 2015; 17 (4): 339-351.
    • (2015) J Mol Diagn , vol.17 , Issue.4 , pp. 339-351
    • Lee, L.A.1    Arvai, K.J.2    Jones, D.3
  • 57
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • Richards CS, Bale S, Bellissimo DB, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008; 10 (4): 294-300.
    • (2008) Genet Med. , vol.10 , Issue.4 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3
  • 58
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet. 2010; 11 (6): 415-425.
    • (2010) Nat Rev Genet , vol.11 , Issue.6 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 59
    • 84873995626 scopus 로고    scopus 로고
    • TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis
    • Kulasekararaj AG, Smith AE, Mian SA, et al. TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis. Br J Haematol. 2013; 160 (5): 660-672.
    • (2013) Br J Haematol , vol.160 , Issue.5 , pp. 660-672
    • Kulasekararaj, A.G.1    Smith, A.E.2    Mian, S.A.3
  • 60
    • 84857734093 scopus 로고    scopus 로고
    • TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome
    • Rucker FG, Schlenk RF, Bullinger L, et al. TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome. Blood. 2012; 119 (9): 2114-2121.
    • (2012) Blood , vol.119 , Issue.9 , pp. 2114-2121
    • Rucker, F.G.1    Schlenk, R.F.2    Bullinger, L.3
  • 61
    • 84878446656 scopus 로고    scopus 로고
    • Mutational analysis of therapyrelated myelodysplastic syndromes and acute myelogenous leukemia
    • Shih AH, Chung SS, Dolezal EK, et al. Mutational analysis of therapyrelated myelodysplastic syndromes and acute myelogenous leukemia. Haematologica. 2013; 98 (6): 908-912.
    • (2013) Haematologica , vol.98 , Issue.6 , pp. 908-912
    • Shih, A.H.1    Chung, S.S.2    Dolezal, E.K.3
  • 62
    • 84965091250 scopus 로고    scopus 로고
    • Predicting prognosis in chronic lymphocytic leukemia in the contemporary era
    • Nabhan C, Raca G, Wang YL. Predicting prognosis in chronic lymphocytic leukemia in the contemporary era. JAMA Oncol. 2015; 1 (7): 965-974.
    • (2015) JAMA Oncol , vol.1 , Issue.7 , pp. 965-974
    • Nabhan, C.1    Raca, G.2    Wang, Y.L.3
  • 63
    • 84880535720 scopus 로고    scopus 로고
    • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    • Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013; 15 (7): 565-574.
    • (2013) Genet Med , vol.15 , Issue.7 , pp. 565-574
    • Green, R.C.1    Berg, J.S.2    Grody, W.W.3
  • 64
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000; 15 (1): 7-12.
    • (2000) Hum Mutat , vol.15 , Issue.1 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 65
    • 84961892079 scopus 로고    scopus 로고
    • Human Genome Variation Society
    • Human Genome Variation Society. Available from: http://www.hgvs. org/content/guidelines
  • 66
    • 0036206069 scopus 로고    scopus 로고
    • Guidelines for human gene nomenclature
    • Wain HM, Bruford EA, Lovering RC, et al. Guidelines for human gene nomenclature. Genomics. 2002; 79 (4): 464-470.
    • (2002) Genomics , vol.79 , Issue.4 , pp. 464-470
    • Wain, H.M.1    Bruford, E.A.2    Lovering, R.C.3
  • 67
    • 84961930720 scopus 로고    scopus 로고
    • HUGO Gene Nomenclature Comittee
    • HUGO Gene Nomenclature Comittee. Available from: http://www. genenames.org.
  • 68
    • 77954314621 scopus 로고    scopus 로고
    • Locus Reference Genomic sequences: An improved basis for describing human DNA variants
    • Dalgleish R, Flicek P, Cunningham F, et al. Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med. 2010; 2 (4): 24.
    • (2010) Genome Med , vol.2 , Issue.4 , pp. 24
    • Dalgleish, R.1    Flicek, P.2    Cunningham, F.3
  • 69
    • 79960405019 scopus 로고    scopus 로고
    • The variant call format and VCFtools
    • Danecek P, Auton A, Abecasis G, et al. The variant call format and VCFtools. Bioinformatics. 2011; 27 (15): 2156-2158.
    • (2011) Bioinformatics , vol.27 , Issue.15 , pp. 2156-2158
    • Danecek, P.1    Auton, A.2    Abecasis, G.3
  • 70
    • 77951226627 scopus 로고    scopus 로고
    • The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants
    • Cock PJ, Fields CJ, Goto N, et al. The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants. Nucleic Acids Res. 2010; 38 (6): 1767-1771.
    • (2010) Nucleic Acids Res , vol.38 , Issue.6 , pp. 1767-1771
    • Cock, P.J.1    Fields, C.J.2    Goto, N.3
  • 71
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009; 25 (16): 2078-2079.
    • (2009) Bioinformatics , vol.25 , Issue.16 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3
  • 72
    • 79955554401 scopus 로고    scopus 로고
    • Efficient storage of high throughput DNA sequencing data using reference-based compression
    • Hsi-Yang Fritz M, Leinonen R, Cochrane G, et al. Efficient storage of high throughput DNA sequencing data using reference-based compression. Genome Res. 2011; 21 (5): 734-740.
    • (2011) Genome Res , vol.21 , Issue.5 , pp. 734-740
    • Hsi-Yang Fritz, M.1    Leinonen, R.2    Cochrane, G.3
  • 73
    • 84877022323 scopus 로고    scopus 로고
    • JAK2 p.V617F allele burden in myeloproliferative neoplasms one month after allogeneic stem cell transplantation significantly predicts outcome and risk of relapse
    • Lange T, Edelmann A, Siebolts U, et al. JAK2 p.V617F allele burden in myeloproliferative neoplasms one month after allogeneic stem cell transplantation significantly predicts outcome and risk of relapse. Haematologica. 2013; 98 (5): 722-728.
    • (2013) Haematologica , vol.98 , Issue.5 , pp. 722-728
    • Lange, T.1    Edelmann, A.2    Siebolts, U.3
  • 74
    • 61949135475 scopus 로고    scopus 로고
    • JAK2-V617F-triggered preemptive and salvage adoptive immunotherapy with donor-lymphocyte infusion in patients with myelofibrosis after allogeneic stem cell transplantation
    • Kroger N, Alchalby H, Klyuchnikov E, et al. JAK2-V617F-triggered preemptive and salvage adoptive immunotherapy with donor-lymphocyte infusion in patients with myelofibrosis after allogeneic stem cell transplantation. Blood. 2009; 113 (8): 1866-1868.
    • (2009) Blood , vol.113 , Issue.8 , pp. 1866-1868
    • Kroger, N.1    Alchalby, H.2    Klyuchnikov, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.