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Volumn 7, Issue 10, 2012, Pages

COPS: A Sensitive and Accurate Tool for Detecting Somatic Copy Number Alterations Using Short-Read Sequence Data from Paired Samples

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ARTICLE; CLINICAL ASSESSMENT TOOL; CONTROLLED STUDY; COPY NUMBER USING PAIRED SAMPLES; GENE DOSAGE; INTERMETHOD COMPARISON; NEOPLASM; SENSITIVITY AND SPECIFICITY; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SIMULATION; SOMATIC COPY NUMBER ALTERATION;

EID: 84867722841     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0047812     Document Type: Article
Times cited : (13)

References (49)
  • 1
    • 34247897129 scopus 로고    scopus 로고
    • A common 93-kb duplicated DNA sequence at 1q21.2 in acute lymphoblastic leukemia and Burkitt lymphoma
    • 10.1016/j.cancergencyto.2007.01.011
    • La Starza R, Crescenzi B, Pierini V, Romoli S, Gorello P, et al. (2007) A common 93-kb duplicated DNA sequence at 1q21.2 in acute lymphoblastic leukemia and Burkitt lymphoma. Cancer Genet Cytogenet 175: 73-76 doi:10.1016/j.cancergencyto.2007.01.011.
    • (2007) Cancer Genet Cytogenet , vol.175 , pp. 73-76
    • La Starza, R.1    Crescenzi, B.2    Pierini, V.3    Romoli, S.4    Gorello, P.5
  • 2
    • 0033674221 scopus 로고    scopus 로고
    • Detecting gene copy number fluctuations in tumor cells by microarray analysis of genomic representations
    • 10.1101/gr.138300
    • Lucito R, West J, Reiner A, Alexander J, Esposito D, et al. (2000) Detecting gene copy number fluctuations in tumor cells by microarray analysis of genomic representations. Genome Res 10: 1726-1736 doi:10.1101/gr.138300.
    • (2000) Genome Res , vol.10 , pp. 1726-1736
    • Lucito, R.1    West, J.2    Reiner, A.3    Alexander, J.4    Esposito, D.5
  • 3
    • 13844250828 scopus 로고    scopus 로고
    • Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors
    • 10.1073/pnas.162471999
    • Pollack JR, Sorlie T, Perou CM, Rees CA, Jeffrey SS, et al. (2002) Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors. Proc Natl Acad Sci U S A 99: 12963-12968. doi:10.1073/pnas.162471999.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 12963-12968
    • Pollack, J.R.1    Sorlie, T.2    Perou, C.M.3    Rees, C.A.4    Jeffrey, S.S.5
  • 4
    • 64749094310 scopus 로고    scopus 로고
    • The cancer genome
    • 10.1038/nature07943
    • Stratton MR, Campbell PJ, Futreal PA, (2009) The cancer genome. Nature 458: 719-724 doi:10.1038/nature07943.
    • (2009) Nature , vol.458 , pp. 719-724
    • Stratton, M.R.1    Campbell, P.J.2    Futreal, P.A.3
  • 5
    • 0037370476 scopus 로고    scopus 로고
    • The genetics and genomics of cancer
    • 10.1038/ng1107
    • Balmain A, Gray J, Ponder B, (2003) The genetics and genomics of cancer. Nat Genet 33 (Suppl):: 238-244 doi:10.1038/ng1107.
    • (2003) Nat Genet , vol.33 , Issue.SUPPL. , pp. 238-244
    • Balmain, A.1    Gray, J.2    Ponder, B.3
  • 6
    • 33746741125 scopus 로고    scopus 로고
    • Copy number variation: new insights in genome diversity
    • 10.1101/gr.3677206
    • Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, et al. (2006) Copy number variation: new insights in genome diversity. Genome Res 16: 949-961 doi:10.1101/gr.3677206.
    • (2006) Genome Res , vol.16 , pp. 949-961
    • Freeman, J.L.1    Perry, G.H.2    Feuk, L.3    Redon, R.4    McCarroll, S.A.5
  • 7
    • 0036407262 scopus 로고    scopus 로고
    • Molecular mechanisms for genomic disorders
    • 10.1146/annurev.genom.3.032802.120023
    • Inoue K, Lupski JR, (2002) Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet 3: 199-242 doi:10.1146/annurev.genom.3.032802.120023.
    • (2002) Annu Rev Genomics Hum Genet , vol.3 , pp. 199-242
    • Inoue, K.1    Lupski, J.R.2
  • 8
    • 0022388606 scopus 로고
    • Association of multiple copies of the N-myc oncogene with rapid progression of neuroblastomas
    • Seeger RC, Brodeur GM, Sather H, Dalton A, Siegel SE, et al. (1985) Association of multiple copies of the N-myc oncogene with rapid progression of neuroblastomas. N Engl J Med 313: 1111-1116.
    • (1985) N Engl J Med , vol.313 , pp. 1111-1116
    • Seeger, R.C.1    Brodeur, G.M.2    Sather, H.3    Dalton, A.4    Siegel, S.E.5
  • 9
    • 28144453057 scopus 로고    scopus 로고
    • Chromosome 1p and 11q deletions and outcome in neuroblastoma
    • Attiyeh EF, London WB, Mosse YP, Wang Q, Winter C, et al. (2005) Chromosome 1p and 11q deletions and outcome in neuroblastoma. N Engl J Med 353: 2243-2253.
    • (2005) N Engl J Med , vol.353 , pp. 2243-2253
    • Attiyeh, E.F.1    London, W.B.2    Mosse, Y.P.3    Wang, Q.4    Winter, C.5
  • 10
    • 21744443423 scopus 로고    scopus 로고
    • High-resolution detection and mapping of genomic DNA alterations in neuroblastoma
    • 10.1002/gcc.20198
    • Mosse YP, Greshock J, Margolin A, Naylor T, Cole K, et al. (2005) High-resolution detection and mapping of genomic DNA alterations in neuroblastoma. Genes Chromosomes Cancer 43: 390-403 doi:10.1002/gcc.20198.
    • (2005) Genes Chromosomes Cancer , vol.43 , pp. 390-403
    • Mosse, Y.P.1    Greshock, J.2    Margolin, A.3    Naylor, T.4    Cole, K.5
  • 11
    • 54049094708 scopus 로고    scopus 로고
    • Identification of ALK as a major familial neuroblastoma predisposition gene
    • 10.1038/nature07261
    • Mosse YP, Laudenslager M, Longo L, Cole KA, Wood A, et al. (2008) Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 455: 930-935 doi:10.1038/nature07261.
    • (2008) Nature , vol.455 , pp. 930-935
    • Mosse, Y.P.1    Laudenslager, M.2    Longo, L.3    Cole, K.A.4    Wood, A.5
  • 12
    • 44149113011 scopus 로고    scopus 로고
    • Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
    • 10.1002/ddrr.5
    • Prasad SE, Howley S, Murphy KC, (2008) Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Dev Disabil Res Rev 14: 26-34 doi:10.1002/ddrr.5.
    • (2008) Dev Disabil Res Rev , vol.14 , pp. 26-34
    • Prasad, S.E.1    Howley, S.2    Murphy, K.C.3
  • 13
    • 51449098809 scopus 로고    scopus 로고
    • Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array
    • 10.1002/ajmg.a.32459
    • Newkirk HL, Bittel DC, Butler MG, (2008) Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array. Am J Med Genet A 146A: 2346-2354 doi:10.1002/ajmg.a.32459.
    • (2008) Am J Med Genet A , vol.146 A , pp. 2346-2354
    • Newkirk, H.L.1    Bittel, D.C.2    Butler, M.G.3
  • 14
    • 33748924655 scopus 로고    scopus 로고
    • Intermediate phenotypes and genetic mechanisms of psychiatric disorders
    • 10.1038/nrn1993
    • Meyer-Lindenberg A, Weinberger DR, (2006) Intermediate phenotypes and genetic mechanisms of psychiatric disorders. Nat Rev Neurosci 7: 818-827 doi:10.1038/nrn1993.
    • (2006) Nat Rev Neurosci , vol.7 , pp. 818-827
    • Meyer-Lindenberg, A.1    Weinberger, D.R.2
  • 15
    • 41049083885 scopus 로고    scopus 로고
    • Smith-Magenis syndrome
    • 10.1038/sj.ejhg.5202009
    • Elsea SH, Girirajan S, (2008) Smith-Magenis syndrome. Eur J Hum Genet 16: 412-421 doi:10.1038/sj.ejhg.5202009.
    • (2008) Eur J Hum Genet , vol.16 , pp. 412-421
    • Elsea, S.H.1    Girirajan, S.2
  • 16
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • 10.1126/science.1098918
    • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525-528 doi:10.1126/science.1098918.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3    Alexander, J.4    Young, J.5
  • 17
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • 10.1038/nature05329
    • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454 doi:10.1038/nature05329.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3    Feuk, L.4    Perry, G.H.5
  • 18
    • 62649088108 scopus 로고    scopus 로고
    • Population analysis of large copy number variants and hotspots of human genetic disease
    • 10.1016/j.ajhg.2008.12.014
    • Itsara A, Cooper GM, Baker C, Girirajan S, Li J, et al. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161 doi:10.1016/j.ajhg.2008.12.014.
    • (2009) Am J Hum Genet , vol.84 , pp. 148-161
    • Itsara, A.1    Cooper, G.M.2    Baker, C.3    Girirajan, S.4    Li, J.5
  • 19
    • 59949106015 scopus 로고    scopus 로고
    • Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy
    • 10.1101/gr.075671.107
    • Attiyeh EF, Diskin SJ, Attiyeh MA, Mosse YP, Hou C, et al. (2009) Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. Genome Res 19: 276-283 doi:10.1101/gr.075671.107.
    • (2009) Genome Res , vol.19 , pp. 276-283
    • Attiyeh, E.F.1    Diskin, S.J.2    Attiyeh, M.A.3    Mosse, Y.P.4    Hou, C.5
  • 20
    • 0141994858 scopus 로고    scopus 로고
    • Genomic microarrays in human genetic disease and cancer
    • 10.1093/hmg/ddg261
    • Albertson DG, Pinkel D, (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12 Spec No 2: R145-152 doi:10.1093/hmg/ddg261.
    • (2003) Hum Mol Genet , vol.12 , Issue.2
    • Albertson, D.G.1    Pinkel, D.2
  • 21
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • 10.1038/nature08516
    • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712 doi:10.1038/nature08516.
    • (2010) Nature , vol.464 , pp. 704-712
    • Conrad, D.F.1    Pinto, D.2    Redon, R.3    Feuk, L.4    Gokcumen, O.5
  • 22
    • 34347339520 scopus 로고    scopus 로고
    • Methods and strategies for analyzing copy number variation using DNA microarrays
    • 10.1038/ng2028
    • Carter NP, (2007) Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 39: S16-21 doi:10.1038/ng2028.
    • (2007) Nat Genet , vol.39
    • Carter, N.P.1
  • 23
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • 10.1038/nature06862
    • Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, et al. (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453: 56-64 doi:10.1038/nature06862.
    • (2008) Nature , vol.453 , pp. 56-64
    • Kidd, J.M.1    Cooper, G.M.2    Donahue, W.F.3    Hayden, H.S.4    Sampas, N.5
  • 24
    • 84975804424 scopus 로고    scopus 로고
    • Mapping copy number variation by population-scale genome sequencing
    • 10.1038/nature09708
    • Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, et al. (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470: 59-65 doi:10.1038/nature09708.
    • (2011) Nature , vol.470 , pp. 59-65
    • Mills, R.E.1    Walter, K.2    Stewart, C.3    Handsaker, R.E.4    Chen, K.5
  • 25
    • 70349556543 scopus 로고    scopus 로고
    • Personalized copy number and segmental duplication maps using next-generation sequencing
    • 10.1038/ng.437
    • Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, et al. (2009) Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 41: 1061-1067 doi:10.1038/ng.437.
    • (2009) Nat Genet , vol.41 , pp. 1061-1067
    • Alkan, C.1    Kidd, J.M.2    Marques-Bonet, T.3    Aksay, G.4    Antonacci, F.5
  • 26
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • 10.1038/nature07517
    • Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al. (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456: 53-59 doi:10.1038/nature07517.
    • (2008) Nature , vol.456 , pp. 53-59
    • Bentley, D.R.1    Balasubramanian, S.2    Swerdlow, H.P.3    Smith, G.P.4    Milton, J.5
  • 27
    • 44349191457 scopus 로고    scopus 로고
    • Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    • 10.1038/ng.128
    • Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, et al. (2008) Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 40: 722-729 doi:10.1038/ng.128.
    • (2008) Nat Genet , vol.40 , pp. 722-729
    • Campbell, P.J.1    Stephens, P.J.2    Pleasance, E.D.3    O'Meara, S.4    Li, H.5
  • 28
    • 58149218240 scopus 로고    scopus 로고
    • High-resolution mapping of copy-number alterations with massively parallel sequencing
    • 10.1038/nmeth.1276
    • Chiang DY, Getz G, Jaffe DB, O'Kelly MJ, Zhao X, et al. (2009) High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods 6: 99-103 doi:10.1038/nmeth.1276.
    • (2009) Nat Methods , vol.6 , pp. 99-103
    • Chiang, D.Y.1    Getz, G.2    Jaffe, D.B.3    O'Kelly, M.J.4    Zhao, X.5
  • 29
    • 69749122557 scopus 로고    scopus 로고
    • Sensitive and accurate detection of copy number variants using read depth of coverage
    • 10.1101/gr.092981.109
    • Yoon S, Xuan Z, Makarov V, Ye K, Sebat J, (2009) Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res 19: 1586-1592 doi:10.1101/gr.092981.109.
    • (2009) Genome Res , vol.19 , pp. 1586-1592
    • Yoon, S.1    Xuan, Z.2    Makarov, V.3    Ye, K.4    Sebat, J.5
  • 30
    • 78649309503 scopus 로고    scopus 로고
    • Detecting copy number variation with mated short reads
    • 10.1101/gr.106344.110
    • Medvedev P, Fiume M, Dzamba M, Smith T, Brudno M, (2010) Detecting copy number variation with mated short reads. Genome Res 20: 1613-1622 doi:10.1101/gr.106344.110.
    • (2010) Genome Res , vol.20 , pp. 1613-1622
    • Medvedev, P.1    Fiume, M.2    Dzamba, M.3    Smith, T.4    Brudno, M.5
  • 31
    • 77951719393 scopus 로고    scopus 로고
    • Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
    • 10.1038/ng.555
    • Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, et al. (2010) Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet 42: 400-405 doi:10.1038/ng.555.
    • (2010) Nat Genet , vol.42 , pp. 400-405
    • Park, H.1    Kim, J.I.2    Ju, Y.S.3    Gokcumen, O.4    Mills, R.E.5
  • 32
    • 39649117755 scopus 로고    scopus 로고
    • The impact of next-generation sequencing technology on genetics
    • 10.1016/j.tig.2007.12.007
    • Mardis ER, (2008) The impact of next-generation sequencing technology on genetics. Trends Genet 24: 133-141 doi:10.1016/j.tig.2007.12.007.
    • (2008) Trends Genet , vol.24 , pp. 133-141
    • Mardis, E.R.1
  • 33
    • 64849083125 scopus 로고    scopus 로고
    • CNV-seq, a new method to detect copy number variation using high-throughput sequencing
    • 10.1186/1471-2105-10-80
    • Xie C, Tammi MT, (2009) CNV-seq, a new method to detect copy number variation using high-throughput sequencing. BMC Bioinformatics 10: 80 doi:10.1186/1471-2105-10-80.
    • (2009) BMC Bioinformatics , vol.10 , pp. 80
    • Xie, C.1    Tammi, M.T.2
  • 34
    • 77955044283 scopus 로고    scopus 로고
    • SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data
    • 10.1093/bioinformatics/btq293
    • Zeitouni B, Boeva V, Janoueix-Lerosey I, Loeillet S, Legoix-ne P, et al. (2010) SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data. Bioinformatics 26: 1895-1896 doi:10.1093/bioinformatics/btq293.
    • (2010) Bioinformatics , vol.26 , pp. 1895-1896
    • Zeitouni, B.1    Boeva, V.2    Janoueix-Lerosey, I.3    Loeillet, S.4    Legoix-ne, P.5
  • 35
    • 79951970227 scopus 로고    scopus 로고
    • CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
    • 10.1101/gr.114876.110
    • Abyzov A, Urban AE, Snyder M, Gerstein M, (2011) CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21: 974-984 doi:10.1101/gr.114876.110.
    • (2011) Genome Res , vol.21 , pp. 974-984
    • Abyzov, A.1    Urban, A.E.2    Snyder, M.3    Gerstein, M.4
  • 36
    • 78651430230 scopus 로고    scopus 로고
    • Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization
    • 10.1093/bioinformatics/btq635
    • Boeva V, Zinovyev A, Bleakley K, Vert JP, Janoueix-Lerosey I, et al. (2011) Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization. Bioinformatics 27: 268-269 doi:10.1093/bioinformatics/btq635.
    • (2011) Bioinformatics , vol.27 , pp. 268-269
    • Boeva, V.1    Zinovyev, A.2    Bleakley, K.3    Vert, J.P.4    Janoueix-Lerosey, I.5
  • 37
    • 79551621409 scopus 로고    scopus 로고
    • ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads
    • 10.1371/journal.pone.0016327
    • Miller CA, Hampton O, Coarfa C, Milosavljevic A, (2011) ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads. PLoS One 6: e16327 doi:10.1371/journal.pone.0016327.
    • (2011) PLoS One , vol.6
    • Miller, C.A.1    Hampton, O.2    Coarfa, C.3    Milosavljevic, A.4
  • 38
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • 10.1093/bioinformatics/btp324
    • Li H, Durbin R, (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760 doi:10.1093/bioinformatics/btp324.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 39
    • 84861400043 scopus 로고    scopus 로고
    • cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate
    • 10.1093/nar/gks003
    • Klambauer G, Schwarzbauer K, Mayr A, Clevert DA, Mitterecker A, et al. (2012) cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. Nucleic Acids Res 40: e69 doi:10.1093/nar/gks003.
    • (2012) Nucleic Acids Res , vol.40
    • Klambauer, G.1    Schwarzbauer, K.2    Mayr, A.3    Clevert, D.A.4    Mitterecker, A.5
  • 40
    • 80053446554 scopus 로고    scopus 로고
    • Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
    • 10.1093/bioinformatics/btr462
    • Sathirapongsasuti JF, Lee H, Horst BA, Brunner G, Cochran AJ, et al. (2011) Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics 27: 2648-2654 doi:10.1093/bioinformatics/btr462.
    • (2011) Bioinformatics , vol.27 , pp. 2648-2654
    • Sathirapongsasuti, J.F.1    Lee, H.2    Horst, B.A.3    Brunner, G.4    Cochran, A.J.5
  • 41
    • 70450177746 scopus 로고    scopus 로고
    • BFAST: an alignment tool for large scale genome resequencing
    • 10.1371/journal.pone.0007767
    • Homer N, Merriman B, Nelson SF, (2009) BFAST: an alignment tool for large scale genome resequencing. PLoS One 4: e7767 doi:10.1371/journal.pone.0007767.
    • (2009) PLoS One , vol.4
    • Homer, N.1    Merriman, B.2    Nelson, S.F.3
  • 42
    • 84876744302 scopus 로고    scopus 로고
    • Novoalign website. Available
    • Novoalign website. Available: http://www.novocraft.com/main/index.php. Accessed 2011 Jun 17.
  • 43
    • 84876744872 scopus 로고    scopus 로고
    • Smalt website. Available
    • Smalt website. Available: ftp://ftp.sanger.ac.uk/pub4/resources/software/smalt/. Accessed Accessed 2011 Jul 22.
  • 44
    • 79956307251 scopus 로고    scopus 로고
    • Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads
    • 10.1101/gr.111120.110
    • Lunter G, Goodson M, (2011) Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res 21: 936-939 doi:10.1101/gr.111120.110.
    • (2011) Genome Res , vol.21 , pp. 936-939
    • Lunter, G.1    Goodson, M.2
  • 45
    • 84876731499 scopus 로고    scopus 로고
    • Illumina website. Available
    • Illumina website. Available: http://www.illumina.com/Documents/products/technotes/technote_cnv_algorithms.pdf. Accessed Feb 21, 2012.
  • 46
    • 79951748341 scopus 로고    scopus 로고
    • CNAseg-a novel framework for identification of copy number changes in cancer from second-generation sequencing data
    • 10.1093/bioinformatics/btq587
    • Ivakhno S, Royce T, Cox AJ, Evers DJ, Cheetham RK, et al. (2010) CNAseg-a novel framework for identification of copy number changes in cancer from second-generation sequencing data. Bioinformatics 26: 3051-3058 doi:10.1093/bioinformatics/btq587.
    • (2010) Bioinformatics , vol.26 , pp. 3051-3058
    • Ivakhno, S.1    Royce, T.2    Cox, A.J.3    Evers, D.J.4    Cheetham, R.K.5
  • 47
    • 84855417495 scopus 로고    scopus 로고
    • Customisation of the exome data analysis pipeline using a combinatorial approach
    • Pattnaik S, Vaidyanathan S, Pooja DG, Deepak S, Panda B, (2012) Customisation of the exome data analysis pipeline using a combinatorial approach. PLoS One 7: e30080.
    • (2012) PLoS One , vol.7
    • Pattnaik, S.1    Vaidyanathan, S.2    Pooja, D.G.3    Deepak, S.4    Panda, B.5
  • 48
    • 84867693981 scopus 로고    scopus 로고
    • Consortium ICG, doi:10.1371/journal.pone.0030080
    • Consortium ICG (2010) Quality Standards of Samples. doi:10.1371/journal.pone.0030080.
    • (2010) Quality Standards of Samples
  • 49
    • 79961007031 scopus 로고    scopus 로고
    • CREST maps somatic structural variation in cancer genomes with base-pair resolution
    • 10.1038/nmeth.1628
    • Wang J, Mullighan CG, Easton J, Roberts S, Heatley SL, et al. (2011) CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods 8: 652-654 doi:10.1038/nmeth.1628.
    • (2011) Nat Methods , vol.8 , pp. 652-654
    • Wang, J.1    Mullighan, C.G.2    Easton, J.3    Roberts, S.4    Heatley, S.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.