메뉴 건너뛰기




Volumn 144, Issue 4, 2015, Pages 667-674

Occult specimen contamination in routine clinical next-generation sequencing testing

Author keywords

Cancer; DNA contamination; Health care quality assurance; Next generation sequencing; Quality improvement; Specimen provenance

Indexed keywords

ARTICLE; BIOINFORMATICS; BONE MARROW TRANSPLANTATION; DNA CONTAMINATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; HAPLOTYPE; HUMAN; HUMAN TISSUE; MICROSATELLITE MARKER; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SHORT TANDEM REPEAT; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR PATHOLOGY; NEOPLASM; PROCEDURES; STANDARDS;

EID: 84947793247     PISSN: 00029173     EISSN: 19437722     Source Type: Journal    
DOI: 10.1309/AJCPR88WDJJLDMBN     Document Type: Article
Times cited : (32)

References (26)
  • 1
    • 84899087266 scopus 로고    scopus 로고
    • Clinical impact of small TP53 mutated subclones in chronic lymphocytic leukemia
    • Rossi D, Khiabanian H, Spina V, et al. Clinical impact of small TP53 mutated subclones in chronic lymphocytic leukemia. Blood. 2014;123:2139-2147.
    • (2014) Blood , vol.123 , pp. 2139-2147
    • Rossi, D.1    Khiabanian, H.2    Spina, V.3
  • 2
    • 84890421610 scopus 로고    scopus 로고
    • Validation of a next-generation sequencing assay for clinical molecular oncology
    • Cottrell CE, Al-Kateb H, Bredemeyer AJ, et al. Validation of a next-generation sequencing assay for clinical molecular oncology. J Mol Diagn. 2014;16:89-105.
    • (2014) J Mol Diagn. , vol.16 , pp. 89-105
    • Cottrell, C.E.1    Al-Kateb, H.2    Bredemeyer, A.J.3
  • 3
    • 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;16:56-67.
    • (2014) J Mol Diagn. , vol.16 , pp. 56-67
    • Pritchard, C.C.1    Salipante, S.J.2    Koehler, K.3
  • 4
    • 84890326219 scopus 로고    scopus 로고
    • Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence data
    • Spencer DH, Tyagi M, Vallania F, et al. Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence data. J Mol Diagn. 2014;16:75-88.
    • (2014) J Mol Diagn. , vol.16 , pp. 75-88
    • Spencer, D.H.1    Tyagi, M.2    Vallania, F.3
  • 5
    • 78049398107 scopus 로고    scopus 로고
    • Distant metastasis occurs late during the genetic evolution of pancreatic cancer
    • Yachida S, Jones S, Bozic I, et al. Distant metastasis occurs late during the genetic evolution of pancreatic cancer. Nature. 2010;467:1114-1117.
    • (2010) Nature , vol.467 , pp. 1114-1117
    • Yachida, S.1    Jones, S.2    Bozic, I.3
  • 6
    • 84863393080 scopus 로고    scopus 로고
    • Intratumor heterogeneity and branched evolution revealed by multiregion sequencing
    • Gerlinger M, Rowan AJ, Horswell S, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012;366:883-892.
    • (2012) N Engl J Med. , vol.366 , pp. 883-892
    • Gerlinger, M.1    Rowan, A.J.2    Horswell, S.3
  • 7
    • 84871734405 scopus 로고    scopus 로고
    • Rate of occult specimen provenance complications in routine clinical practice
    • Pfeifer JD, Liu J. Rate of occult specimen provenance complications in routine clinical practice. Am J Clin Pathol. 2013;139:93-100.
    • (2013) Am J Clin Pathol. , vol.139 , pp. 93-100
    • Pfeifer, J.D.1    Liu, J.2
  • 8
    • 76449100520 scopus 로고    scopus 로고
    • Patient misidentification in laboratory medicine: A qualitative analysis of 227 root cause analysis reports in the veterans health administration
    • Dunn EJ, Moga PJ. Patient misidentification in laboratory medicine: a qualitative analysis of 227 root cause analysis reports in the Veterans Health Administration. Arch Pathol Lab Med. 2010;134:244-255.
    • (2010) Arch Pathol Lab Med. , vol.134 , pp. 244-255
    • Dunn, E.J.1    Moga, P.J.2
  • 9
    • 0029806087 scopus 로고    scopus 로고
    • Extraneous tissue in surgical pathology: A college of American pathologists Q-probes study of 275 laboratories
    • Gephardt GN, Zarbo RJ. Extraneous tissue in surgical pathology: a College of American Pathologists Q-Probes study of 275 laboratories. Arch Pathol Lab Med. 1996;120:1009-1014.
    • (1996) Arch Pathol Lab Med. , vol.120 , pp. 1009-1014
    • Gephardt, G.N.1    Zarbo, R.J.2
  • 10
    • 67049146525 scopus 로고    scopus 로고
    • Tissue floaters and contaminants in the histology laboratory
    • Platt E, Sommer P, McDonald L, et al. Tissue floaters and contaminants in the histology laboratory. Arch Pathol Lab Med. 2009;133:973-978.
    • (2009) Arch Pathol Lab Med. , vol.133 , pp. 973-978
    • Platt, E.1    Sommer, P.2    McDonald, L.3
  • 11
    • 79955588025 scopus 로고    scopus 로고
    • Biopsy misidentification identified by DNA profiling in a large multicenter trial
    • Marberger M, McConnell JD, Fowler I, et al. Biopsy misidentification identified by DNA profiling in a large multicenter trial. J Clin Oncol. 2011;29:1744-1749.
    • (2011) J Clin Oncol. , vol.29 , pp. 1744-1749
    • Marberger, M.1    McConnell, J.D.2    Fowler, I.3
  • 12
    • 33746764438 scopus 로고    scopus 로고
    • Identification errors involving clinical laboratories: A college of American pathologists Q-probes study of patient and specimen identification errors at 120 institutions
    • Valenstein PN, Raab SS, Walsh MK; College of American Pathologists. Identification errors involving clinical laboratories: a College of American Pathologists Q-Probes study of patient and specimen identification errors at 120 institutions. Arch Pathol Lab Med. 2006;130:1106-1113.
    • (2006) Arch Pathol Lab Med. , vol.130 , pp. 1106-1113
    • College of American Pathologists1    Valenstein, P.N.2    Raab, S.S.3    Walsh, M.K.4
  • 13
    • 80052018244 scopus 로고    scopus 로고
    • Mislabeling of cases, specimens, blocks, and slides: A college of American pathologists study of 136 institutions
    • Nakhleh RE, Idowu MO, Souers RJ, et al. Mislabeling of cases, specimens, blocks, and slides: a College of American Pathologists study of 136 institutions. Arch Pathol Lab Med. 2011;135:969-974.
    • (2011) Arch Pathol Lab Med. , vol.135 , pp. 969-974
    • Nakhleh, R.E.1    Idowu, M.O.2    Souers, R.J.3
  • 14
    • 67049146525 scopus 로고    scopus 로고
    • Tissue floaters and contaminants in the histology laboratory
    • Platt E, Sommer P, McDonald L, et al. Tissue floaters and contaminants in the histology laboratory. Arch Pathol Lab Med. 2009;133:973-978.
    • (2009) Arch Pathol Lab Med. , vol.133 , pp. 973-978
    • Platt, E.1    Sommer, P.2    McDonald, L.3
  • 15
    • 84943606757 scopus 로고    scopus 로고
    • April 21, 2014 edition. Northfield, IL: College of American Pathologists
    • College of American Pathologists, Commission on Laboratory Accreditation. Molecular Pathology Checklist. April 21, 2014 edition. Northfield, IL: College of American Pathologists; 2014.
    • (2014) Molecular Pathology Checklist
    • College of American Pathologists1
  • 16
    • 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;15:733-747.
    • (2013) Genet Med. , vol.15 , pp. 733-747
    • Rehm, H.L.1    Bale, S.J.2    Bayrak-Toydemir, P.3
  • 17
    • 84907202707 scopus 로고    scopus 로고
    • Q-probes studies in anatomic pathology: Quality improvement through targeted benchmarking
    • Tworek JA, Volmar KE, McCall SJ, et al. Q-probes studies in anatomic pathology: quality improvement through targeted benchmarking. Arch Pathol Lab Med. 2014;138:1156-1166.
    • (2014) Arch Pathol Lab Med. , vol.138 , pp. 1156-1166
    • Tworek, J.A.1    Volmar, K.E.2    McCall, S.J.3
  • 18
    • 84907200992 scopus 로고    scopus 로고
    • Fifteen years' experience of a college of American pathologists program for continuous monitoring and improvement
    • Nakhleh RE, Souers RJ, Bashleben CP, et al. Fifteen years' experience of a College of American Pathologists program for continuous monitoring and improvement. Arch Pathol Lab Med. 2014;138:1150-1155.
    • (2014) Arch Pathol Lab Med. , vol.138 , pp. 1150-1155
    • Nakhleh, R.E.1    Souers, R.J.2    Bashleben, C.P.3
  • 19
    • 84897028806 scopus 로고    scopus 로고
    • Diagnostic utility of targeted next-generation sequencing in problematic cases
    • Sehn JK, Hagemann IS, Pfeifer JD, et al. Diagnostic utility of targeted next-generation sequencing in problematic cases. Am J Surg Pathol. 2014;38:534-541.
    • (2014) Am J Surg Pathol. , vol.38 , pp. 534-541
    • Sehn, J.K.1    Hagemann, I.S.2    Pfeifer, J.D.3
  • 20
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56-65.
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 21
    • 0035173378 scopus 로고    scopus 로고
    • DbSNP: The NCBI database of genetic variation
    • Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29:308-311.
    • (2001) Nucleic Acids Res. , vol.29 , pp. 308-311
    • Sherry, S.T.1    Ward, M.H.2    Kholodov, M.3
  • 22
    • 79251509578 scopus 로고    scopus 로고
    • The changing spectrum of DNA-based specimen provenance testing in surgical pathology
    • Pfeifer JD, Zehnbauer B, Payton J. The changing spectrum of DNA-based specimen provenance testing in surgical pathology. Am J Clin Pathol. 2011;135:132-138.
    • (2011) Am J Clin Pathol. , vol.135 , pp. 132-138
    • Pfeifer, J.D.1    Zehnbauer, B.2    Payton, J.3
  • 23
    • 84868490540 scopus 로고    scopus 로고
    • Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data
    • Jun G, Flickinger M, Hetrick KN, et al. Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. Am J Hum Genet. 2012;91:839-848.
    • (2012) Am J Hum Genet. , vol.91 , pp. 839-848
    • Jun, G.1    Flickinger, M.2    Hetrick, K.N.3
  • 24
    • 84884635605 scopus 로고    scopus 로고
    • A SNP profiling panel for sample tracking in whole-exome sequencing studies
    • Pengelly RJ, Gibson J, Andreoletti G, et al. A SNP profiling panel for sample tracking in whole-exome sequencing studies. Genome Med. 2013;5:89.
    • (2013) Genome Med. , vol.5 , pp. 89
    • Pengelly, R.J.1    Gibson, J.2    Andreoletti, G.3
  • 25
    • 80052707308 scopus 로고    scopus 로고
    • ContEst: Estimating cross-contamination of human samples in next-generation sequencing data
    • Cibulskis K, McKenna A, Fennell T, et al. ContEst: estimating cross-contamination of human samples in next-generation sequencing data. Bioinformatics. 2011;27:2601-2602.
    • (2011) Bioinformatics , vol.27 , pp. 2601-2602
    • Cibulskis, K.1    McKenna, A.2    Fennell, T.3
  • 26
    • 84906248336 scopus 로고    scopus 로고
    • Haplotype counting by next-generation sequencing for ultrasensitive human DNA detection
    • Debeljak M, Freed DN, Welch JA, et al. Haplotype counting by next-generation sequencing for ultrasensitive human DNA detection. J Mol Diagn. 2014;16:495-503.
    • (2014) J Mol Diagn. , vol.16 , pp. 495-503
    • Debeljak, M.1    Freed, D.N.2    Welch, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.