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Volumn 16, Issue 1, 2015, Pages

CopywriteR: DNA copy number detection from off-target sequence data

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; DNA DETERMINATION; GENE DOSAGE; GENE SEQUENCE; GENETIC ALGORITHM; INTERMETHOD COMPARISON; REPRODUCIBILITY; SEQUENCE ANALYSIS; SEQUENCE DATABASE; SIGNAL NOISE RATIO; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; ALGORITHM; COPY NUMBER VARIATION; DNA SEQUENCE; EXOME; EXON; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME;

EID: 84937691121     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-015-0617-1     Document Type: Article
Times cited : (173)

References (50)
  • 1
    • 75749096130 scopus 로고    scopus 로고
    • Cancer genome sequencing: a review
    • Mardis ER, Wilson RK. Cancer genome sequencing: a review. Hum Mol Genet. 2009;18:R163-8.
    • (2009) Hum Mol Genet , vol.18 , pp. R163-R168
    • Mardis, E.R.1    Wilson, R.K.2
  • 2
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol. 2008;26:1135-45.
    • (2008) Nat Biotechnol , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 6
    • 79952284127 scopus 로고    scopus 로고
    • Hallmarks of cancer: the next generation
    • Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation. Cell. 2011;144:646-74.
    • (2011) Cell , vol.144 , pp. 646-674
    • Hanahan, D.1    Weinberg, R.A.2
  • 8
    • 84863922124 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of human colon and rectal cancer
    • Network CGA. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012;487:330-7.
    • (2012) Nature , vol.487 , pp. 330-337
    • Network, C.G.A.1
  • 9
    • 54549108740 scopus 로고    scopus 로고
    • Comprehensive genomic characterization defines human glioblastoma genes and core pathways
    • McLendon R, Friedman A, Bigner D, Van Meir EG, Brat DJ, Mastrogianakis GM, et al. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature. 2008;455:1061-8.
    • (2008) Nature , vol.455 , pp. 1061-1068
    • McLendon, R.1    Friedman, A.2    Bigner, D.3    Meir, E.G.4    Brat, D.J.5    Mastrogianakis, G.M.6
  • 10
    • 84913590291 scopus 로고    scopus 로고
    • DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly
    • Scheinin I, Sie D, Bengtsson H, van de Wiel MA, Olshen AB, van Thuijl HF, et al. DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly. Genome Res. 2014;24:2022-32.
    • (2014) Genome Res , vol.24 , pp. 2022-2032
    • Scheinin, I.1    Sie, D.2    Bengtsson, H.3    Wiel, M.A.4    Olshen, A.B.5    Thuijl, H.F.6
  • 13
    • 84897853363 scopus 로고    scopus 로고
    • WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing
    • Holt C, Losic B, Pai D, Zhao Z, Trinh Q, Syam S, et al. WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing. Bioinformatics. 2014;30:768-74.
    • (2014) Bioinformatics , vol.30 , pp. 768-774
    • Holt, C.1    Losic, B.2    Pai, D.3    Zhao, Z.4    Trinh, Q.5    Syam, S.6
  • 14
    • 81355164570 scopus 로고    scopus 로고
    • Detection of somatic copy number alterations in cancer using targeted exome capture sequencing
    • Lonigro RJ, Grasso CS, Robinson DR, Jing X, Wu Y-M, Cao X, et al. Detection of somatic copy number alterations in cancer using targeted exome capture sequencing. Neoplasia. 2011;13:1019-25.
    • (2011) Neoplasia , vol.13 , pp. 1019-1025
    • Lonigro, R.J.1    Grasso, C.S.2    Robinson, D.R.3    Jing, X.4    Wu, Y.-M.5    Cao, X.6
  • 15
    • 58149239686 scopus 로고    scopus 로고
    • Genomic loss of microRNA-101 leads to overexpression of histone methyltransferase EZH2 in cancer
    • Varambally S, Cao Q, Mani RS, Shankar S, Wang X, Ateeq B, et al. Genomic loss of microRNA-101 leads to overexpression of histone methyltransferase EZH2 in cancer. Science. 2008;322:1695-9.
    • (2008) Science , vol.322 , pp. 1695-1699
    • Varambally, S.1    Cao, Q.2    Mani, R.S.3    Shankar, S.4    Wang, X.5    Ateeq, B.6
  • 16
    • 77953957633 scopus 로고    scopus 로고
    • A coding-independent function of gene and pseudogene mRNAs regulates tumour biology
    • Poliseno L, Salmena L, Zhang J, Carver B, Haveman WJ, Pandolfi PP. A coding-independent function of gene and pseudogene mRNAs regulates tumour biology. Nature. 2010;465:1033-8.
    • (2010) Nature , vol.465 , pp. 1033-1038
    • Poliseno, L.1    Salmena, L.2    Zhang, J.3    Carver, B.4    Haveman, W.J.5    Pandolfi, P.P.6
  • 17
  • 18
    • 84867280219 scopus 로고    scopus 로고
    • Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth
    • Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet. 2012;91:597-607.
    • (2012) Am J Hum Genet , vol.91 , pp. 597-607
    • Fromer, M.1    Moran, J.L.2    Chambert, K.3    Banks, E.4    Bergen, S.E.5    Ruderfer, D.M.6
  • 19
    • 84864609288 scopus 로고    scopus 로고
    • Copy number variation detection and genotyping from exome sequence data
    • Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, et al. Copy number variation detection and genotyping from exome sequence data. Genome Res. 2012;22:1525-32.
    • (2012) Genome Res , vol.22 , pp. 1525-1532
    • Krumm, N.1    Sudmant, P.H.2    Ko, A.3    O'Roak, B.J.4    Malig, M.5    Coe, B.P.6
  • 21
    • 84901982775 scopus 로고    scopus 로고
    • An evaluation of copy number variation detection tools from whole-exome sequencing data
    • Tan R, Wang Y, Kleinstein SE, Liu Y, Zhu X, Guo H, et al. An evaluation of copy number variation detection tools from whole-exome sequencing data. Hum Mutat. 2014;35:899-907.
    • (2014) Hum Mutat , vol.35 , pp. 899-907
    • Tan, R.1    Wang, Y.2    Kleinstein, S.E.3    Liu, Y.4    Zhu, X.5    Guo, H.6
  • 23
    • 0346752110 scopus 로고    scopus 로고
    • Millions of years of evolution preserved: a comprehensive catalog of the processed pseudogenes in the human genome
    • Zhang Z, Harrison PM, Liu Y, Gerstein M. Millions of years of evolution preserved: a comprehensive catalog of the processed pseudogenes in the human genome. Genome Res. 2003;13:2541-58.
    • (2003) Genome Res , vol.13 , pp. 2541-2558
    • Zhang, Z.1    Harrison, P.M.2    Liu, Y.3    Gerstein, M.4
  • 25
    • 84939143545 scopus 로고    scopus 로고
    • CopywriteR [ https://github.com/PeeperLab/CopywriteR ]
  • 29
    • 3543105225 scopus 로고    scopus 로고
    • Circular binary segmentation for the analysis of array-based DNA copy number data
    • Olshen AB, Venkatraman ES, Lucito R, Wigler M. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics. 2004;5:557-72.
    • (2004) Biostatistics , vol.5 , pp. 557-572
    • Olshen, A.B.1    Venkatraman, E.S.2    Lucito, R.3    Wigler, M.4
  • 30
    • 77955778246 scopus 로고    scopus 로고
    • Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens
    • Wood HM, Belvedere O, Conway C, Daly C, Chalkley R, Bickerdike M, et al. Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens. Nucleic Acids Res. 2010;38:e151.
    • (2010) Nucleic Acids Res , vol.38 , pp. e151
    • Wood, H.M.1    Belvedere, O.2    Conway, C.3    Daly, C.4    Chalkley, R.5    Bickerdike, M.6
  • 32
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet. 1998;20:207-11.
    • (1998) Nat Genet , vol.20 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3    Clark, S.4    Poole, I.5    Kowbel, D.6
  • 34
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489:57-74.
    • (2012) Nature , vol.489 , pp. 57-74
  • 35
    • 84856008906 scopus 로고    scopus 로고
    • Differential oestrogen receptor binding is associated with clinical outcome in breast cancer
    • Ross-Innes CS, Stark R, Teschendorff AE, Holmes KA, Ali HR, Dunning MJ, et al. Differential oestrogen receptor binding is associated with clinical outcome in breast cancer. Nature. 2012;481:389-93.
    • (2012) Nature , vol.481 , pp. 389-393
    • Ross-Innes, C.S.1    Stark, R.2    Teschendorff, A.E.3    Holmes, K.A.4    Ali, H.R.5    Dunning, M.J.6
  • 36
    • 84856536814 scopus 로고    scopus 로고
    • Primary colorectal cancers and their subsequent hepatic metastases are genetically different: implications for selection of patients for targeted treatment
    • Vermaat JS, Nijman IJ, Koudijs MJ, Gerritse FL, Scherer SJ, Mokry M, et al. Primary colorectal cancers and their subsequent hepatic metastases are genetically different: implications for selection of patients for targeted treatment. Clin Cancer Res. 2012;18:688-99.
    • (2012) Clin Cancer Res , vol.18 , pp. 688-699
    • Vermaat, J.S.1    Nijman, I.J.2    Koudijs, M.J.3    Gerritse, F.L.4    Scherer, S.J.5    Mokry, M.6
  • 37
    • 84927042705 scopus 로고    scopus 로고
    • Detailed imaging and genetic analysis reveal a secondary BRAF(L) (505H) resistance mutation and extensive intra-patient heterogeneity in metastatic BRAF mutant melanoma patients treated with vemurafenib
    • Hoogstraat M, Gadellaa-van Hooijdonk CG, Ubink I, Besselink NJM, Pieterse M, Veldhuis W, et al. Detailed imaging and genetic analysis reveal a secondary BRAF(L) (505H) resistance mutation and extensive intra-patient heterogeneity in metastatic BRAF mutant melanoma patients treated with vemurafenib. Pigment Cell Melanoma Res. 2014; doi:10.1111/pcmr.12347.
    • (2014) Pigment Cell Melanoma Res.
    • Hoogstraat, M.1    Gadellaa-van Hooijdonk, C.G.2    Ubink, I.3    Besselink, N.J.M.4    Pieterse, M.5    Veldhuis, W.6
  • 38
  • 39
    • 84939200395 scopus 로고    scopus 로고
    • Gene Expression Omnibus. [ http://www.ncbi.nlm.nih.gov/geo ]
  • 40
    • 84939189081 scopus 로고    scopus 로고
    • European Nucleotide Archive. [ http://www.ebi.ac.uk/ena/home ]
  • 41
    • 84939124088 scopus 로고    scopus 로고
    • European Genome-phenome Archive. [ http://www.ebi.ac.uk/ega/home ]
  • 43
    • 84939162878 scopus 로고    scopus 로고
    • MatrixStats. [ https://github.com/HenrikBengtsson/matrixStats]
  • 45
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-60.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 46
    • 84939180725 scopus 로고    scopus 로고
    • Picard. [ http://broadinstitute.github.io/picard/ ]
  • 47
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43:491-8.
    • (2011) Nat Genet , vol.43 , pp. 491-498
    • DePristo, M.A.1    Banks, E.2    Poplin, R.3    Garimella, K.V.4    Maguire, J.R.5    Hartl, C.6
  • 48
    • 34147136617 scopus 로고    scopus 로고
    • Exploration, normalization, and genotype calls of high-density oligonucleotide SNP array data
    • Carvalho B, Bengtsson H, Speed TP, Irizarry RA. Exploration, normalization, and genotype calls of high-density oligonucleotide SNP array data. Biostatistics. 2007;8:485-99.
    • (2007) Biostatistics , vol.8 , pp. 485-499
    • Carvalho, B.1    Bengtsson, H.2    Speed, T.P.3    Irizarry, R.A.4
  • 49
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789-96.
    • (2003) Nature , vol.426 , pp. 789-796


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.