메뉴 건너뛰기




Volumn 14, Issue 1, 2013, Pages

Accurate indel prediction using paired-end short reads

Author keywords

Discriminative machine learning; Indel detection; Next generation sequencing; Paired end short reads; Split read mapping

Indexed keywords

ACCURACY; ARABIDOPSIS; ARTICLE; COMPUTER PROGRAM; CONTROLLED STUDY; DISCRIMINATION LEARNING; FALSE POSITIVE RESULT; GENE DELETION; GENE INSERTION; GENE SEQUENCE; INDEL CLASSIFICATION; MACHINE LEARNING; NEXT GENERATION SEQUENCING; NONHUMAN; PREDICTION; SUPPORT VECTOR MACHINE; VALIDATION STUDY;

EID: 84874223315     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-14-132     Document Type: Article
Times cited : (29)

References (32)
  • 6
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • 10.1038/nrg2958, 21358748
    • Alkan C, Coe BP, Eichler EE. Genome structural variation discovery and genotyping. Nat Rev Genet 2011, 12(5):363-376. [http://dx.doi.org/10.1038/nrg2958], 10.1038/nrg2958, 21358748.
    • (2011) Nat Rev Genet , vol.12 , Issue.5 , pp. 363-376
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 8
    • 70449704529 scopus 로고    scopus 로고
    • Computational methods for discovering structural variation with next-generation sequencing
    • [PMID:19844226]
    • Medvedev P, Stanciu M, Brudno M. Computational methods for discovering structural variation with next-generation sequencing. Nat Methods 2009, 6(11 Suppl):S13-20. [http://www.ncbi.nlm.nih.gov/pubmed/19844226]. [PMID:19844226].
    • (2009) Nat Methods , vol.6 , Issue.11 SUPPL
    • Medvedev, P.1    Stanciu, M.2    Brudno, M.3
  • 10
    • 34347353237 scopus 로고    scopus 로고
    • Copy-number variation and association studies of human disease
    • [PMID:17597780]
    • McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nat Genet 2007, 39(7 Suppl):S37-42. [http://www.ncbi.nlm.nih.gov/pubmed/17597780]. [PMID:17597780].
    • (2007) Nat Genet , vol.39 , Issue.7 SUPPL
    • McCarroll, S.A.1    Altshuler, D.M.2
  • 12
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    • 10.1038/nrg2344, 18398418
    • McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JPA, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008, 9(5):356-369. [http://dx.doi.org/10.1038/nrg2344], 10.1038/nrg2344, 18398418.
    • (2008) Nat Rev Genet , vol.9 , Issue.5 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3    Goldstein, D.B.4    Little, J.5    Ioannidis, J.P.A.6    Hirschhorn, J.N.7
  • 14
    • 0034644643 scopus 로고    scopus 로고
    • Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering time
    • 10.1126/science.290.5490.344, 11030654
    • Johanson U, West J, Lister C, Michaels S, Amasino R, Dean C. Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering time. Science 2000, 290(5490):344-347. [http://www.sciencemag.org/content/290/5490/344.abstract], 10.1126/science.290.5490.344, 11030654.
    • (2000) Science , vol.290 , Issue.5490 , pp. 344-347
    • Johanson, U.1    West, J.2    Lister, C.3    Michaels, S.4    Amasino, R.5    Dean, C.6
  • 15
    • 0042190562 scopus 로고    scopus 로고
    • Attenuation of FLOWERING LOCUS C activity as a mechanism for the evolution of summer-annual flowering behavior in Arabidopsis
    • 10.1073/pnas.1531467100, 187779, 12904584
    • Michaels SD, He Y, Scortecci KC, Amasino RM. Attenuation of FLOWERING LOCUS C activity as a mechanism for the evolution of summer-annual flowering behavior in Arabidopsis. Proc Nat Acad Sci 2003, 100(17):10102-10107. [http://www.pnas.org/content/100/17/10102.abstract], 10.1073/pnas.1531467100, 187779, 12904584.
    • (2003) Proc Nat Acad Sci , vol.100 , Issue.17 , pp. 10102-10107
    • Michaels, S.D.1    He, Y.2    Scortecci, K.C.3    Amasino, R.M.4
  • 16
    • 34347339520 scopus 로고    scopus 로고
    • Methods and strategies for analyzing copy number variation using DNA microarrays
    • 10.1038/ng2028, 2697494, 17597776
    • Carter NP. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 2007, 39:S16-S21. 10.1038/ng2028, 2697494, 17597776.
    • (2007) Nat Genet , vol.39
    • Carter, N.P.1
  • 17
    • 57149099394 scopus 로고    scopus 로고
    • Sequencing of natural strains of Arabidopsis thaliana with short reads
    • [PMID:18818371], 10.1101/gr.080200.108, 2593571, 18818371
    • Ossowski S, Schneeberger K, Clark RM, Lanz C, Warthmann N, Weigel D. Sequencing of natural strains of Arabidopsis thaliana with short reads. Genome Res 2008, 18(12):2024-2033. [http://www.ncbi.nlm.nih.gov/pubmed/18818371]. [PMID:18818371], 10.1101/gr.080200.108, 2593571, 18818371.
    • (2008) Genome Res , vol.18 , Issue.12 , pp. 2024-2033
    • Ossowski, S.1    Schneeberger, K.2    Clark, R.M.3    Lanz, C.4    Warthmann, N.5    Weigel, D.6
  • 18
    • 76249113666 scopus 로고    scopus 로고
    • Simultaneous alignment of short reads against multiple genomes
    • 10.1186/gb-2009-10-9-r98, 2768987, 19761611
    • Schneeberger K, Hagmann J, Ossowski S, Warthmann N, Gesing S, Kohlbacher O, Weigel D. Simultaneous alignment of short reads against multiple genomes. Genome Biol 2009, 10:R98. [http://genomebiology.com/content/10/9/R98], 10.1186/gb-2009-10-9-r98, 2768987, 19761611.
    • (2009) Genome Biol , vol.10
    • Schneeberger, K.1    Hagmann, J.2    Ossowski, S.3    Warthmann, N.4    Gesing, S.5    Kohlbacher, O.6    Weigel, D.7
  • 21
    • 46249087524 scopus 로고    scopus 로고
    • A robust framework for detecting structural variations in a genome
    • 10.1093/bioinformatics/btn176, 2718654, 18586745
    • Lee S, Cheran E, Brudno M. A robust framework for detecting structural variations in a genome. Bioinformatics 2008, 24(13):i59-i67. [http://bioinformatics.oxfordjournals.org/content/24/13/i59.abstract], 10.1093/bioinformatics/btn176, 2718654, 18586745.
    • (2008) Bioinformatics , vol.24 , Issue.13
    • Lee, S.1    Cheran, E.2    Brudno, M.3
  • 22
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • [PMID:19561018]
    • Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics (Oxford, England) 2009, 25(21):2865-2871. [http://www.ncbi.nlm.nih.gov/pubmed/19561018]. [PMID:19561018].
    • (2009) Bioinformatics (Oxford, England) , vol.25 , Issue.21 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5
  • 23
    • 82255164279 scopus 로고    scopus 로고
    • SVseq: an approach for detecting exact breakpoints of deletions with low-coverage sequence data
    • 10.1093/bioinformatics/btr563, 21994222
    • Zhang J, Wu Y. SVseq: an approach for detecting exact breakpoints of deletions with low-coverage sequence data. Bioinformatics 2011, 27(23):3228-3234. [http://bioinformatics.oxfordjournals.org/content/27/23/3228.abstract], 10.1093/bioinformatics/btr563, 21994222.
    • (2011) Bioinformatics , vol.27 , Issue.23 , pp. 3228-3234
    • Zhang, J.1    Wu, Y.2
  • 24
    • 79960572201 scopus 로고    scopus 로고
    • Identification of genomic indels and structural variations using split reads. BMC, journal=Genomics
    • [PMID:21787423]
    • Zhang ZD, Du J, Lam H, Abyzov A, Urban AE, Snyder M, Gerstein M. Identification of genomic indels and structural variations using split reads. BMC, journal=Genomics. 2011, 12:375. [http://www.ncbi.nlm.nih.gov/pubmed/21787423]. [PMID:21787423].
    • (2011) , vol.12 , pp. 375
    • Zhang, Z.D.1    Du, J.2    Lam, H.3    Abyzov, A.4    Urban, A.E.5    Snyder, M.6    Gerstein, M.7
  • 26
    • 33845703344 scopus 로고    scopus 로고
    • What is a support vector machine?
    • Noble WS. What is a support vector machine?. Nat Biotech 2006, 24(12):1565-1567. [http://dx.doi.org/10.1038/nbt1206-1565].
    • (2006) Nat Biotech , vol.24 , Issue.12 , pp. 1565-1567
    • Noble, W.S.1
  • 27
    • 0020484488 scopus 로고
    • An improved algorithm for matching biological sequences
    • [PMID:7166760], 10.1016/0022-2836(82)90398-9, 7166760
    • Gotoh O. An improved algorithm for matching biological sequences. J Mol Biol 1982, 162(3):705-708. [http://www.ncbi.nlm.nih.gov/pubmed/7166760]. [PMID:7166760], 10.1016/0022-2836(82)90398-9, 7166760.
    • (1982) J Mol Biol , vol.162 , Issue.3 , pp. 705-708
    • Gotoh, O.1
  • 28
    • 79951961326 scopus 로고    scopus 로고
    • AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision
    • 10.1093/bioinformatics/btq713, 3042181, 21233167
    • Abyzov A, Gerstein M. AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision. Bioinformatics 2011, 27(5):595-603. [http://bioinformatics.oxfordjournals.org/content/27/5/595.abstract], 10.1093/bioinformatics/btq713, 3042181, 21233167.
    • (2011) Bioinformatics , vol.27 , Issue.5 , pp. 595-603
    • Abyzov, A.1    Gerstein, M.2
  • 31
    • 79955702502 scopus 로고    scopus 로고
    • LIBSVM: A library for support vector machines
    • 27:1-27:27
    • Chang C, Lin C. LIBSVM: A library for support vector machines. ACM Trans Intell Syst Technol 2011, 2(3):27:1-27:27. [http://doi.acm.org/10.1145/1961189.1961199].
    • (2011) ACM Trans Intell Syst Technol , vol.2 , Issue.3
    • Chang, C.1    Lin, C.2
  • 32
    • 0019887799 scopus 로고
    • Identification of common molecular subsequences
    • [PMID:7265238], 10.1016/0022-2836(81)90087-5, 7265238
    • Smith TF, Waterman MS. Identification of common molecular subsequences. J Mol Biol 1981, 147:195-197. [http://www.ncbi.nlm.nih.gov/pubmed/7265238]. [PMID:7265238], 10.1016/0022-2836(81)90087-5, 7265238.
    • (1981) J Mol Biol , vol.147 , pp. 195-197
    • Smith, T.F.1    Waterman, M.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.