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Volumn , Issue , 2012, Pages 38-41

A comparative study of methods for detecting small somatic variants in disease-normal paired next generation sequencing data

Author keywords

computational tool; deletion; insertion; next generation sequencing; single nucleotide polymorphism; variant call

Indexed keywords

COMPUTATIONAL TOOLS; DELETION; INSERTION; NEXT-GENERATION SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISMS; VARIANT CALL;

EID: 84877817206     PISSN: 21503001     EISSN: 2150301X     Source Type: Conference Proceeding    
DOI: 10.1109/GENSIPS.2012.6507721     Document Type: Conference Paper
Times cited : (2)

References (13)
  • 1
    • 84859430859 scopus 로고    scopus 로고
    • De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
    • J.B. Rivière, et al., "De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome," Nat Genet, vol. 44, pp. 440-444, 2012.
    • (2012) Nat Genet , vol.44 , pp. 440-444
    • Rivière, J.B.1
  • 2
    • 84865180558 scopus 로고    scopus 로고
    • NGS Catalog: A database of next generation sequencing studies in humans
    • J. Xia, Q. Wang, P. Jia, B. Wang, W. Pao, and Z. Zhao, "NGS Catalog: A database of next generation sequencing studies in humans," Hum Mut, vol. 33, pp. E2341-2355, 2012.
    • (2012) Hum Mut , vol.33
    • Xia, J.1    Wang, Q.2    Jia, P.3    Wang, B.4    Pao, W.5    Zhao, Z.6
  • 3
    • 84859249611 scopus 로고    scopus 로고
    • JointSNVMix: A probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data
    • A. Roth, et al., "JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data," Bioinformatics, vol.28, pp. 907-913, 2012.
    • (2012) Bioinformatics , vol.28 , pp. 907-913
    • Roth, A.1
  • 4
    • 84877795199 scopus 로고    scopus 로고
    • MuTech, https://confluence.broadinstitute.org/display/CGATools/ MuTect#MuTect-Example, 2012.
    • (2012) MuTech
  • 5
    • 84856565531 scopus 로고    scopus 로고
    • SomaticSniper: Identification of somatic point mutations in whole genome sequencing data
    • D. E. Larson, et al., "SomaticSniper: identification of somatic point mutations in whole genome sequencing data," Bioinformatics, vol.28, pp. 311-317, 2012.
    • (2012) Bioinformatics , vol.28 , pp. 311-317
    • Larson, D.E.1
  • 6
    • 84864153492 scopus 로고    scopus 로고
    • Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs
    • C. T. Saunders, W. S. Wong, S. Swamy, J. Becq, L. J. Murray, and R. K. Cheetham, "Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs," Bioinformatics, vol.28, pp. 1811-1817, 2012.
    • (2012) Bioinformatics , vol.28 , pp. 1811-1817
    • Saunders, C.T.1    Wong, W.S.2    Swamy, S.3    Becq, J.4    Murray, L.J.5    Cheetham, R.K.6
  • 7
    • 84863229597 scopus 로고    scopus 로고
    • VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
    • D.C. Koboldt, et al., "VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing," Genome Res, vol.22, pp. 568-576, 2012.
    • (2012) Genome Res , vol.22 , pp. 568-576
    • Koboldt, D.C.1
  • 8
    • 77951957381 scopus 로고    scopus 로고
    • SNVMix: Predicting single nucleotide variants from next generation sequencing of tumors
    • R. Goya, et al., "SNVMix: predicting single nucleotide variants from next generation sequencing of tumors," Bioinformatics, vol.26, pp. 730-736, 2010.
    • (2010) Bioinformatics , vol.26 , pp. 730-736
    • Goya, R.1
  • 9
    • 84861729132 scopus 로고    scopus 로고
    • pIRS: Profile based Illumina pair-end Reads Simulator
    • X. Hu, et al., "pIRS: Profile based Illumina pair-end Reads Simulator," Bioinformatics, vol.28, pp. 1533-1535, 2012.
    • (2012) Bioinformatics , vol.28 , pp. 1533-1535
    • Hu, X.1
  • 10
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler Transform
    • H. Li, and R. Durbin, "Fast and accurate short read alignment with Burrows-Wheeler Transform," Bioinformatics, vol.25, pp. 1754-1760, 2009.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 11
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A Map Reduce framework for analyzing next-generation DNA sequencing data
    • A. McKenna, et al., "The Genome Analysis Toolkit: A Map Reduce framework for analyzing next-generation DNA sequencing data," Genome Res, vol.20, pp. 1297-1303, 2010.
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1
  • 12
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence alignment/map (SAM) format and SAMtools
    • H. Li, et al., "The Sequence alignment/map (SAM) format and SAMtools," Bioinformatics, vol.25, pp. 2078-2079, 2009.
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1
  • 13
    • 84856080112 scopus 로고    scopus 로고
    • Feature-based classifiers for somatic mutation detection in tumour-normal paired sequencing data
    • J. Ding, et al., "Feature-based classifiers for somatic mutation detection in tumour-normal paired sequencing data," Bioinformatics, vol.28, pp. 167-175, 2011.
    • (2011) Bioinformatics , vol.28 , pp. 167-175
    • Ding, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.