메뉴 건너뛰기




Volumn 4, Issue 11, 2013, Pages 1868-1881

Computational methods for detecting copy number variations in cancer genome using next generation sequencing: Principles and challenges

Author keywords

Cancer genome analysis; Copy number variation; Next generation sequencing; Somatic mutations

Indexed keywords

ALGORITHM; ANALYTIC METHOD; ARTICLE; CANCER GENETICS; CANCER GENOME ANALYSIS; COMPUTER ANALYSIS; COMPUTER PROGRAM; COPY NUMBER VARIATION; COST EFFECTIVENESS ANALYSIS; DATA PROCESSING; GENE FREQUENCY; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC PURITY; GENOME ANALYSIS; HETEROZYGOSITY LOSS; MATHEMATICAL ANALYSIS; NEXT GENERATION SEQUENCING; PLOIDY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; WORKFLOW;

EID: 84890244872     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.1537     Document Type: Article
Times cited : (80)

References (95)
  • 3
    • 76249088426 scopus 로고    scopus 로고
    • Copy number variations and cancer
    • Shlien A and Malkin D. Copy number variations and cancer. Genome medicine. 2009; 1(6):62.
    • (2009) Genome medicine. , vol.1 , Issue.6 , pp. 62
    • Shlien, A.1    Malkin, D.2
  • 7
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • Alkan C, Coe BP and Eichler EE. Genome structural variation discovery and genotyping. Nature reviews Genetics. 2011; 12(5):363-376.
    • (2011) Nature reviews Genetics. , vol.12 , Issue.5 , pp. 363-376
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 10
    • 84873391241 scopus 로고    scopus 로고
    • Functional genomic analysis of chromosomal aberrations in a compendium of 8000 cancer genomes
    • Kim TM, Xi R, Luquette LJ, Park RW, Johnson MD and Park PJ. Functional genomic analysis of chromosomal aberrations in a compendium of 8000 cancer genomes. Genome research. 2013; 23(2):217-227.
    • (2013) Genome research. , vol.23 , Issue.2 , pp. 217-227
    • Kim, T.M.1    Xi, R.2    Luquette, L.J.3    Park, R.W.4    Johnson, M.D.5    Park, P.J.6
  • 14
    • 84856753045 scopus 로고    scopus 로고
    • The genetic basis for cancer treatment decisions
    • Dancey JE, Bedard PL, Onetto N and Hudson TJ. The genetic basis for cancer treatment decisions. Cell. 2012; 148(3):409-420.
    • (2012) Cell. , vol.148 , Issue.3 , pp. 409-420
    • Dancey, J.E.1    Bedard, P.L.2    Onetto, N.3    Hudson, T.J.4
  • 19
    • 25844490588 scopus 로고    scopus 로고
    • The new cytogenetics: blurring the boundaries with molecular biology
    • Speicher MR and Carter NP. The new cytogenetics: blurring the boundaries with molecular biology. Nature reviews Genetics. 2005; 6(10):782-792.
    • (2005) Nature reviews Genetics. , vol.6 , Issue.10 , pp. 782-792
    • Speicher, M.R.1    Carter, N.P.2
  • 25
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - the next generation
    • Metzker ML. Sequencing technologies - the next generation. Nature reviews Genetics. 2010; 11(1):31-46.
    • (2010) Nature reviews Genetics. , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 56
    • 84863922124 scopus 로고    scopus 로고
    • Comprehensive molecular characterization of human colon and rectal cancer
    • Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012; 487(7407):330-337.
    • (2012) Nature , vol.487 , Issue.7407 , pp. 330-337
  • 57
    • 79551621409 scopus 로고    scopus 로고
    • ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads
    • Miller CA, Hampton O, Coarfa C and Milosavljevic A. ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads. PloS one. 2011; 6(1):e16327.
    • (2011) PloS one. , vol.6 , Issue.1
    • Miller, C.A.1    Hampton, O.2    Coarfa, C.3    Milosavljevic, A.4
  • 59
    • 84875341635 scopus 로고    scopus 로고
    • Patchwork: allele-specific copy number analysis of whole-genome sequenced tumor tissue
    • Mayrhofer M, Dilorenzo S and Isaksson A. Patchwork: allele-specific copy number analysis of whole-genome sequenced tumor tissue. Genome biology. 2013; 14(3):R24.
    • (2013) Genome biology. , vol.14 , Issue.3
    • Mayrhofer, M.1    Dilorenzo, S.2    Isaksson, A.3
  • 60
    • 84890189765 scopus 로고    scopus 로고
    • OncoSNP-SEQ: a statistical approach for the identification of somatic copy number alterations from next-generation sequencing of cancer genomes
    • Yau C. OncoSNP-SEQ: a statistical approach for the identification of somatic copy number alterations from next-generation sequencing of cancer genomes. Bioinformatics. 2013; 29(19):2482-2484.
    • (2013) Bioinformatics. , vol.29 , Issue.19 , pp. 2482-2484
    • Yau, C.1
  • 63
    • 84871614647 scopus 로고    scopus 로고
    • Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping
    • Carter SL, Meyerson M and Getz G. Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping. Preprint at http://precedingsnaturecom/documents/6494/version/1. 2011.
    • (2011)
    • Carter, S.L.1    Meyerson, M.2    Getz, G.3
  • 69
    • 84868016827 scopus 로고    scopus 로고
    • Statistical challenges associated with detecting copy number variations with next-generation sequencing
    • Teo SM, Pawitan Y, Ku CS, Chia KS and Salim A. Statistical challenges associated with detecting copy number variations with next-generation sequencing. Bioinformatics. 2012; 28(21):2711-2718.
    • (2012) Bioinformatics. , vol.28 , Issue.21 , pp. 2711-2718
    • Teo, S.M.1    Pawitan, Y.2    Ku, C.S.3    Chia, K.S.4    Salim, A.5
  • 70
    • 79951970227 scopus 로고    scopus 로고
    • CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
    • Abyzov A, Urban AE, Snyder M and Gerstein M. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome research. 2011; 21(6):974-984.
    • (2011) Genome research. , vol.21 , Issue.6 , pp. 974-984
    • Abyzov, A.1    Urban, A.E.2    Snyder, M.3    Gerstein, M.4
  • 71
    • 84861548193 scopus 로고    scopus 로고
    • Summarizing and correcting the GC content bias in high-throughput sequencing
    • Benjamini Y and Speed TP. Summarizing and correcting the GC content bias in high-throughput sequencing. Nucleic acids research. 2012; 40(10):e72.
    • (2012) Nucleic acids research. , vol.40 , Issue.10
    • Benjamini, Y.1    Speed, T.P.2
  • 72
    • 69749122557 scopus 로고    scopus 로고
    • Sensitive and accurate detection of copy number variants using read depth of coverage
    • Yoon S, Xuan Z, Makarov V, Ye K and Sebat J. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome research. 2009; 19(9):1586-1592.
    • (2009) Genome research. , vol.19 , Issue.9 , pp. 1586-1592
    • Yoon, S.1    Xuan, Z.2    Makarov, V.3    Ye, K.4    Sebat, J.5
  • 73
    • 78751682536 scopus 로고    scopus 로고
    • Overcoming bias and systematic errors in next generation sequencing data
    • Taub MA, Corrada Bravo H and Irizarry RA. Overcoming bias and systematic errors in next generation sequencing data. Genome medicine. 2010; 2(12):87.
    • (2010) Genome medicine. , vol.2 , Issue.12 , pp. 87
    • Taub, M.A.1    Corrada Bravo, H.2    Irizarry, R.A.3
  • 77
    • 3543105225 scopus 로고    scopus 로고
    • Circular binary segmentation for the analysis of array-based DNA copy number data
    • Olshen AB, Venkatraman ES, Lucito R and Wigler M. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics. 2004; 5(4):557-572.
    • (2004) Biostatistics. , vol.5 , Issue.4 , pp. 557-572
    • Olshen, A.B.1    Venkatraman, E.S.2    Lucito, R.3    Wigler, M.4
  • 78
    • 76249097734 scopus 로고    scopus 로고
    • Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays
    • Popova T, Manie E, Stoppa-Lyonnet D, Rigaill G, Barillot E and Stern MH. Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays. Genome biology. 2009; 10(11):R128.
    • (2009) Genome biology. , vol.10 , Issue.11
    • Popova, T.1    Manie, E.2    Stoppa-Lyonnet, D.3    Rigaill, G.4    Barillot, E.5    Stern, M.H.6
  • 79
    • 79960393165 scopus 로고    scopus 로고
    • Parent-specific copy number in paired tumor-normal studies using circular binary segmentation
    • Olshen AB, Bengtsson H, Neuvial P, Spellman PT, Olshen RA and Seshan VE. Parent-specific copy number in paired tumor-normal studies using circular binary segmentation. Bioinformatics. 2011; 27(15):2038-2046.
    • (2011) Bioinformatics. , vol.27 , Issue.15 , pp. 2038-2046
    • Olshen, A.B.1    Bengtsson, H.2    Neuvial, P.3    Spellman, P.T.4    Olshen, R.A.5    Seshan, V.E.6
  • 80
    • 5044223128 scopus 로고    scopus 로고
    • What is a hidden Markov model?
    • Eddy SR. What is a hidden Markov model? Nature biotechnology. 2004; 22(10):1315-1316.
    • (2004) Nature biotechnology. , vol.22 , Issue.10 , pp. 1315-1316
    • Eddy, S.R.1
  • 88
    • 79961202047 scopus 로고    scopus 로고
    • Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm
    • Magi A, Benelli M, Yoon S, Roviello F and Torricelli F. Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm. Nucleic acids research. 2011; 39(10):e65.
    • (2011) Nucleic acids research. , vol.39 , Issue.10
    • Magi, A.1    Benelli, M.2    Yoon, S.3    Roviello, F.4    Torricelli, F.5
  • 92
    • 84857145150 scopus 로고    scopus 로고
    • ART: a next-generation sequencing read simulator
    • Huang W, Li L, Myers JR and Marth GT. ART: a next-generation sequencing read simulator. Bioinformatics. 2012; 28(4):593-594.
    • (2012) Bioinformatics. , vol.28 , Issue.4 , pp. 593-594
    • Huang, W.1    Li, L.2    Myers, J.R.3    Marth, G.T.4
  • 94
    • 84856988681 scopus 로고    scopus 로고
    • GemSIM: general, error-model based simulator of next-generation sequencing data
    • McElroy KE, Luciani F and Thomas T. GemSIM: general, error-model based simulator of next-generation sequencing data. BMC genomics. 2012; 13:74.
    • (2012) BMC genomics. , vol.13 , pp. 74
    • McElroy, K.E.1    Luciani, F.2    Thomas, T.3
  • 95
    • 84876257213 scopus 로고    scopus 로고
    • Wessim: a whole-exome sequencing simulator based on in silico exome capture
    • Kim S, Jeong K and Bafna V. Wessim: a whole-exome sequencing simulator based on in silico exome capture. Bioinformatics. 2013; 29(8):1076-1077.
    • (2013) Bioinformatics. , vol.29 , Issue.8 , pp. 1076-1077
    • Kim, S.1    Jeong, K.2    Bafna, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.