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Volumn 30, Issue 11, 2014, Pages 1514-1521

Visualization and probability-based scoring of structural variants within repetitive sequences

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 84901308393     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/btu054     Document Type: Article
Times cited : (3)

References (31)
  • 1
    • 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. et al. (2011) CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res., 21, 974-984
    • (2011) Genome Res , vol.21 , pp. 974-984
    • Abyzov, A.1
  • 2
    • 70349556543 scopus 로고    scopus 로고
    • Personalized copy number and segmental duplication maps using next-generation sequencing
    • Alkan, C. et al. (2009) Personalized copy number and segmental duplication maps using next-generation sequencing. Nat. Genet., 41, 1061-1067
    • (2009) Nat. Genet , vol.41 , pp. 1061-1067
    • Alkan, C.1
  • 3
    • 77956837921 scopus 로고    scopus 로고
    • Model-based quality assessment and basecalling for second-generation sequencing data
    • Bravo, H.C. and Irizarry, R.A. (2010) Model-based quality assessment and basecalling for second-generation sequencing data. Biometrics, 66, 665-674
    • (2010) Biometrics , vol.66 , pp. 665-674
    • Bravo, H.C.1    Irizarry, R.A.2
  • 4
    • 28744458859 scopus 로고    scopus 로고
    • Bioconductor: Open software development for computational biology and bioinformatics
    • Gentleman, R.C. et al. (2004) Bioconductor: Open software development for computational biology and bioinformatics. Genome Biol., 5, R80
    • (2004) Genome Biol , vol.5
    • Gentleman, R.C.1
  • 5
    • 79954492052 scopus 로고    scopus 로고
    • Performance assessment of copy number microarray platforms using a spike-in experiment
    • Halper-Stromberg, E. et al. (2011) Performance assessment of copy number microarray platforms using a spike-in experiment. Bioinformatics, 27, 1052-1060
    • (2011) Bioinformatics , vol.27 , pp. 1052-1060
    • Halper-Stromberg, E.1
  • 6
    • 84883754153 scopus 로고    scopus 로고
    • Fine mapping of V D J recombinase mediated rearrangements in human lymphoid malignancies
    • Halper-Stromberg, E. et al. (2013) Fine mapping of V(D)J recombinase mediated rearrangements in human lymphoid malignancies. BMC Genom., 14, 565
    • (2013) BMC Genom , vol.14 , pp. 565
    • Halper-Stromberg, E.1
  • 7
    • 77954205450 scopus 로고    scopus 로고
    • Next-generation VariationHunter: Combinatorial algorithms for transposon insertion discovery
    • Hormozdiari, F. et al. (2010) Next-generation VariationHunter: Combinatorial algorithms for transposon insertion discovery. Bioinformatics, 26, i350-i357
    • (2010) Bioinformatics , vol.26
    • Hormozdiari, F.1
  • 8
    • 70350023532 scopus 로고    scopus 로고
    • Improved base calling for the Illumina Genome Analyzer using machine learning strategies
    • Kircher, M. et al. (2009) Improved base calling for the Illumina Genome Analyzer using machine learning strategies. Genome Biol., 10, R83
    • (2009) Genome Biol , vol.10
    • Kircher, M.1
  • 9
    • 84863037350 scopus 로고    scopus 로고
    • Massively parallel sequencing approaches for characterization of structural variation
    • Koboldt, D.C. et al. (2012) Massively parallel sequencing approaches for characterization of structural variation. Methods Mol. Biol., 838, 369-384
    • (2012) Methods Mol. Biol , vol.838 , pp. 369-384
    • Koboldt, D.C.1
  • 10
    • 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
  • 11
    • 62349130698 scopus 로고    scopus 로고
    • Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
    • Langmead, B. et al. (2009) Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol., 10, R25
    • (2009) Genome Biol , vol.10
    • Langmead, B.1
  • 12
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows- Wheeler transform
    • Li, H. and Durbin, R. (2009) Fast and accurate short read alignment with Burrows- Wheeler transform. Bioinformatics, 25, 1754-1760
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 13
    • 41349092308 scopus 로고    scopus 로고
    • The effect of sequence quality on sequence alignment
    • Malde, K. (2008) The effect of sequence quality on sequence alignment. Bioinformatics, 24, 897-900
    • (2008) Bioinformatics , vol.24 , pp. 897-900
    • Malde, K.1
  • 14
    • 0037660900 scopus 로고    scopus 로고
    • The role of DNA breaks in genomic instability and tumorigenesis
    • Mills, K.D. et al. (2003) The role of DNA breaks in genomic instability and tumorigenesis. Immunol. Rev., 194, 77-95
    • (2003) Immunol. Rev , vol.194 , pp. 77-95
    • Mills, K.D.1
  • 15
    • 84859216598 scopus 로고    scopus 로고
    • Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes
    • Molenaar, J.J. et al. (2012) Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature, 483, 589-593
    • (2012) Nature , vol.483 , pp. 589-593
    • Molenaar, J.J.1
  • 18
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto, D. et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368-372
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1
  • 19
    • 77951860138 scopus 로고    scopus 로고
    • Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
    • Quinlan, A.R. et al. (2010) Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Res., 20, 623-635
    • (2010) Genome Res , vol.20 , pp. 623-635
    • Quinlan, A.R.1
  • 20
    • 78651271733 scopus 로고    scopus 로고
    • Integrative genomics viewer
    • Robinson, J.T. et al. (2011) Integrative genomics viewer. Nat. Biotechnol., 29, 24-26
    • (2011) Nat. Biotechnol , vol.29 , pp. 24-26
    • Robinson, J.T.1
  • 21
    • 67049159825 scopus 로고    scopus 로고
    • Shrimp: Accurate mapping of short color-space reads
    • Rumble, S.M. et al. (2009) SHRiMP: Accurate mapping of short color-space reads. PLoS Comput. Biol., 5, e1000386
    • (2009) PLoS Comput. Biol , vol.5
    • Rumble, S.M.1
  • 22
    • 0023807094 scopus 로고
    • Microdeletion syndromes balanced translocations, and gene mapping
    • Schinzel, A. (1988) Microdeletion syndromes, balanced translocations, and gene mapping. J. Med. Genet., 25, 454-462
    • (1988) J. Med. Genet , vol.25 , pp. 454-462
    • Schinzel, A.1
  • 23
    • 66349083341 scopus 로고    scopus 로고
    • A geometric approach for classification and comparison of structural variants
    • Sindi, S. et al. (2009) A geometric approach for classification and comparison of structural variants. Bioinformatics, 25, i222-i230
    • (2009) Bioinformatics , vol.25
    • Sindi, S.1
  • 24
    • 84858853457 scopus 로고    scopus 로고
    • An integrative probabilistic model for identification of structural variation in sequencing data
    • Sindi, S.S. et al. (2012) An integrative probabilistic model for identification of structural variation in sequencing data. Genome Biol., 13, R22
    • (2012) Genome Biol , vol.13
    • Sindi, S.S.1
  • 26
    • 49949085933 scopus 로고    scopus 로고
    • Large recurrent microdeletions associated with schizophrenia
    • Stefansson, H. et al. (2008) Large recurrent microdeletions associated with schizophrenia. Nature, 455, 232-236
    • (2008) Nature , vol.455 , pp. 232-236
    • Stefansson, H.1
  • 27
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • The 1000 Genomes Project Consortium
    • The 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature, 467, 1061-1073
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 28
    • 83855165105 scopus 로고    scopus 로고
    • Repetitive DNA and next-generation sequencing: Computational challenges and solutions
    • Treangen, T.J. and Salzberg, S.L. (2012) Repetitive DNA and next-generation sequencing: Computational challenges and solutions. Nat. Rev. Genet., 13, 36-46
    • (2012) Nat. Rev. Genet , vol.13 , pp. 36-46
    • Treangen, T.J.1    Salzberg, S.L.2
  • 29
    • 84864153342 scopus 로고    scopus 로고
    • The immunoglobulin heavy chain locus: Genetic variation, missing data, and implications for human disease
    • Watson, C.T. and Breden, F. (2012) The immunoglobulin heavy chain locus: Genetic variation, missing data, and implications for human disease. Genes Immun., 13, 363-373
    • (2012) Genes Immun , vol.13 , pp. 363-373
    • Watson, C.T.1    Breden, F.2
  • 30
    • 84862241808 scopus 로고    scopus 로고
    • How do alignment programs perform on sequencing data with varying qualities and from repetitive regions?
    • Yu, X et al. (2012) How do alignment programs perform on sequencing data with varying qualities and from repetitive regions? BioData Min., 5, 6
    • (2012) BioData Min , vol.5 , pp. 6
    • Yu, X.1
  • 31
    • 84866092268 scopus 로고    scopus 로고
    • Using ERDS to infer copy-number variants in high-coverage genomes
    • Zhu, M. et al. (2012) Using ERDS to infer copy-number variants in high-coverage genomes. Am. J. Hum. Genet., 91, 408-421
    • (2012) Am. J. Hum. Genet , vol.91 , pp. 408-421
    • Zhu, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.