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Volumn 43, Issue 3, 2015, Pages

BreaKmer: Detection of structural variation in targeted massively parallel sequencing data using kmers

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; ARTICLE; BASE PAIRING; BREAKMER METHOD; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION; CONSENSUS SEQUENCE; CONTROLLED STUDY; DATA ANALYSIS; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; HUMAN TISSUE; PREDICTION; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SEQUENCE ALIGNMENT; SOLID TUMOR; TISSUE SECTION; VALIDATION PROCESS; BIOPSY; CHEMISTRY; GENETICS; MUTATION; NEOPLASM; PATHOLOGY; SEQUENCE ANALYSIS;

EID: 84936114621     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gku1211     Document Type: Article
Times cited : (149)

References (39)
  • 2
    • 84881101184 scopus 로고    scopus 로고
    • End-joining, translocations and cancer
    • Bunting,S.F. and Nussenzweig,A. (2013) End-joining, translocations and cancer. Nat. Rev. Cancer, 13, 443-454.
    • (2013) Nat. Rev. Cancer , vol.13 , pp. 443-454
    • Bunting, S.F.1    Nussenzweig, A.2
  • 3
    • 33947581390 scopus 로고    scopus 로고
    • The impact of translocations and gene fusions on cancer causation
    • Mitelman,F., Johansson,B. and Mertens,F. (2007) The impact of translocations and gene fusions on cancer causation. Nat. Rev. Cancer, 7, 233-245.
    • (2007) Nat. Rev. Cancer , vol.7 , pp. 233-245
    • Mitelman, F.1    Johansson, B.2    Mertens, F.3
  • 4
    • 0035750347 scopus 로고    scopus 로고
    • Chromosome translocations: Dangerous liaisons revisited
    • Rowley,J.D. (2001) Chromosome translocations: dangerous liaisons revisited. Nat. Rev. Cancer, 1, 245-250.
    • (2001) Nat. Rev. Cancer , vol.1 , pp. 245-250
    • Rowley, J.D.1
  • 5
    • 55249116841 scopus 로고    scopus 로고
    • Chromosomal translocations: Revisited yet again
    • Rowley,J.D. (2008) Chromosomal translocations: revisited yet again. Blood, 112, 2183-2189.
    • (2008) Blood , vol.112 , pp. 2183-2189
    • Rowley, J.D.1
  • 6
    • 0036786901 scopus 로고    scopus 로고
    • The World Health Organization (WHO) classification of the myeloid neoplasms
    • Vardiman,J.W., Harris,N.L. and Brunning,R.D. (2002) The World Health Organization (WHO) classification of the myeloid neoplasms. Blood, 100, 2292-2302.
    • (2002) Blood , vol.100 , pp. 2292-2302
    • Vardiman, J.W.1    Harris, N.L.2    Brunning, R.D.3
  • 7
    • 33847057304 scopus 로고    scopus 로고
    • Imatinib: A review of its use in chronic myeloid leukaemia
    • Moen,M.D., McKeage,K., Plosker,G.L. and Siddiqui,M.A.A. (2007) Imatinib: a review of its use in chronic myeloid leukaemia. Drugs, 67, 299-320.
    • (2007) Drugs , vol.67 , pp. 299-320
    • Moen, M.D.1    McKeage, K.2    Plosker, G.L.3    Siddiqui, M.A.A.4
  • 11
  • 12
    • 0019160710 scopus 로고
    • A new method for fluorescence microscopical localization of specific DNA sequences by in situ hybridization of fluorochromelabelled RNA
    • Bauman,J.G., Wiegant,J., Borst,P. and van Duijn,P. (1980) A new method for fluorescence microscopical localization of specific DNA sequences by in situ hybridization of fluorochromelabelled RNA. Exp. Cell Res., 128, 485-490.
    • (1980) Exp. Cell Res. , vol.128 , pp. 485-490
    • Bauman, J.G.1    Wiegant, J.2    Borst, P.3    Van Duijn, P.4
  • 13
    • 70449620744 scopus 로고    scopus 로고
    • Diagnostic molecular pathology: Current techniques and clinical applications, part I
    • Netto,G.J., Saad,R.D. and Dysert,P.A. (2003) Diagnostic molecular pathology: current techniques and clinical applications, part I. Proc. Bayl. Univ. Med. Cent., 16, 379-383.
    • (2003) Proc. Bayl. Univ. Med. Cent. , vol.16 , pp. 379-383
    • Netto, G.J.1    Saad, R.D.2    Dysert, P.A.3
  • 14
    • 0036092447 scopus 로고    scopus 로고
    • A comparative analysis of FISH, RT-PCR, PCR, and immunohistochemistry for the diagnosis of mantle cell lymphomas
    • Belaud-Rotureau,M.-A., Parrens,M., Dubus,P., Garroste,J.-C., de Mascarel,A. and Merlio,J.-P. (2002) A comparative analysis of FISH, RT-PCR, PCR, and immunohistochemistry for the diagnosis of mantle cell lymphomas. Mod. Pathol., 15, 517-525.
    • (2002) Mod. Pathol. , vol.15 , pp. 517-525
    • Belaud-Rotureau, M.-A.1    Parrens, M.2    Dubus, P.3    Garroste, J.-C.4    De Mascarel, A.5    Merlio, J.-P.6
  • 15
    • 84880485943 scopus 로고    scopus 로고
    • Existing and emerging technologies for tumor genomic profiling
    • MacConaill,L.E. (2013) Existing and emerging technologies for tumor genomic profiling. J. Clin. Oncol., 31, 1815-1824.
    • (2013) J. Clin. Oncol. , vol.31 , pp. 1815-1824
    • MacConaill, L.E.1
  • 16
    • 79951865370 scopus 로고    scopus 로고
    • Clinical implications of the cancer genome
    • MacConaill,L.E. and Garraway,L.A. (2010) Clinical implications of the cancer genome. J. Clin. Oncol., 28, 5219-5228.
    • (2010) J. Clin. Oncol. , vol.28 , pp. 5219-5228
    • MacConaill, L.E.1    Garraway, L.A.2
  • 18
    • 84899740340 scopus 로고    scopus 로고
    • DNA sequencing of cancer: What have we learned?
    • Chmielecki,J. and Meyerson,M. (2014) DNA sequencing of cancer: what have we learned? Annu. Rev. Med., 65, 63-79.
    • (2014) Annu. Rev. Med. , vol.65 , pp. 63-79
    • Chmielecki, J.1    Meyerson, M.2
  • 19
    • 84878754014 scopus 로고    scopus 로고
    • Are results of targeted gene sequencing ready to be used for clinical decision making for patients with acute myelogenous leukemia?
    • Rao,A.V. and Smith,B.D. (2013) Are results of targeted gene sequencing ready to be used for clinical decision making for patients with acute myelogenous leukemia? Curr. Hematol. Malig. Rep., 8, 149-155.
    • (2013) Curr. Hematol. Malig. Rep. , vol.8 , pp. 149-155
    • Rao, A.V.1    Smith, B.D.2
  • 21
    • 70449704529 scopus 로고    scopus 로고
    • Computational methods for discovering structural variation with next-generation sequencing
    • Medvedev,P., Stanciu,M. and Brudno,M. (2009) Computational methods for discovering structural variation with next-generation sequencing. Nat. Methods, 6, S13-S20.
    • (2009) Nat. Methods , vol.6 , pp. S13-S20
    • Medvedev, P.1    Stanciu, M.2    Brudno, M.3
  • 22
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • Alkan,C., Coe,B.P. and Eichler,E.E. (2011) Genome structural variation discovery and genotyping. Nat. Rev. Genet., 12, 363-376.
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 363-376
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 23
    • 84872040514 scopus 로고    scopus 로고
    • Chapter 6: Structural variation and medical genomics
    • Raphael,B.J. (2012) Chapter 6: structural variation and medical genomics. PLoS Comput. Biol., 8, e1002821.
    • (2012) PLoS Comput. Biol. , vol.8
    • Raphael, B.J.1
  • 24
    • 84871988179 scopus 로고    scopus 로고
    • SOAPindel: Efficient identification of indels from short paired reads
    • Li,S., Li,R., Li,H., Lu,J., Li,Y., Bolund,L., Schierup,M.H. and Wang,J. (2013) SOAPindel: efficient identification of indels from short paired reads. Genome Res., 23, 195-200.
    • (2013) Genome Res. , vol.23 , pp. 195-200
    • Li, S.1    Li, R.2    Li, H.3    Lu, J.4    Li, Y.5    Bolund, L.6    Schierup, M.H.7    Wang, J.8
  • 25
    • 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,M.H., Long,Q., Apweiler,R. and Ning,Z. (2009) Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics, 25, 2865-2871.
    • (2009) Bioinformatics , vol.25 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5
  • 26
    • 84872814731 scopus 로고    scopus 로고
    • Analysis of insertion-deletion from deep-sequencing data: Software evaluation for optimal detection
    • Neuman,J.A., Isakov,O. and Shomron,N. (2013) Analysis of insertion-deletion from deep-sequencing data: software evaluation for optimal detection. Brief. Bioinform., 14, 46-55.
    • (2013) Brief. Bioinform. , vol.14 , pp. 46-55
    • Neuman, J.A.1    Isakov, O.2    Shomron, N.3
  • 29
    • 84912096454 scopus 로고    scopus 로고
    • LUMPY: A probabilistic framework for structural variant discovery
    • Layer,R.M., Chiang,C., Quinlan,A.R. and Hall,I.M. (2014) LUMPY: a probabilistic framework for structural variant discovery. Genome Biol., 15, R84.
    • (2014) Genome Biol. , vol.15 , pp. R84
    • Layer, R.M.1    Chiang, C.2    Quinlan, A.R.3    Hall, I.M.4
  • 30
    • 84892656321 scopus 로고    scopus 로고
    • SoftSearch: Integration of multiple sequence features to identify breakpoints of structural variations
    • Hart,S.N., Sarangi,V., Moore,R., Baheti,S., Bhavsar,J.D., Couch,F.J. and Kocher,J.-P.A. (2013) SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations. PLoS ONE, 8, e83356.
    • (2013) PLoS ONE , vol.8
    • Hart, S.N.1    Sarangi, V.2    Moore, R.3    Baheti, S.4    Bhavsar, J.D.5    Couch, F.J.6    Kocher, J.-P.A.7
  • 31
    • 0036226603 scopus 로고    scopus 로고
    • BLAT - The BLAST-like alignment tool
    • Kent,W.J. (2002) BLAT - the BLAST-like alignment tool. Genome Res., 12, 656-664.
    • (2002) Genome Res. , vol.12 , pp. 656-664
    • Kent, W.J.1
  • 32
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li,H. and Durbin,R. (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics, 26, 589-595.
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 34
    • 0033758156 scopus 로고    scopus 로고
    • Cytogenetic and molecular analysis of the acute monocytic leukemia cell line THP-1 with an MLL-AF9 translocation
    • Odero,M.D., Zeleznik-Le,N.J., Chinwalla,V. and Rowley,J.D. (2000) Cytogenetic and molecular analysis of the acute monocytic leukemia cell line THP-1 with an MLL-AF9 translocation. Genes Chromosomes Cancer, 29, 333-338.
    • (2000) Genes Chromosomes Cancer , vol.29 , pp. 333-338
    • Odero, M.D.1    Zeleznik-Le, N.J.2    Chinwalla, V.3    Rowley, J.D.4
  • 36
    • 84878372012 scopus 로고    scopus 로고
    • Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
    • The Cancer Genome Atlas Research Network (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N. Engl. J. Med., 368, 2059-2074.
    • (2013) N. Engl. J. Med. , vol.368 , pp. 2059-2074
  • 38
    • 84863922124 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of human colon and rectal cancer
    • Network,T.C.G.A. (2012) Comprehensive molecular characterization of human colon and rectal cancer. Nature, 487, 330-337.
    • (2012) Nature , vol.487 , pp. 330-337
    • Network, T.C.G.A.1
  • 39
    • 84859210032 scopus 로고    scopus 로고
    • Fast gapped-read alignment with Bowtie 2
    • Langmead,B. and Salzberg,S.L. (2012) Fast gapped-read alignment with Bowtie 2. Nat. Methods, 9, 357-359.
    • (2012) Nat. Methods , vol.9 , pp. 357-359
    • Langmead, B.1    Salzberg, S.L.2


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