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Volumn 5, Issue 7, 2010, Pages

Genome-wide profiling of structural genomic variations in Korean hapmap individuals

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 77955351991     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0011417     Document Type: Article
Times cited : (5)

References (31)
  • 2
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • 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.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3    Feuk, L.4    Perry, G.H.5
  • 3
    • 65449139457 scopus 로고    scopus 로고
    • Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder
    • Cusco I, Medrano A, Gener B, Vilardell M, Gallastegui F, et al. (2009) Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet 18: 1795-1804.
    • (2009) Hum Mol Genet , vol.18 , pp. 1795-1804
    • Cusco, I.1    Medrano, A.2    Gener, B.3    Vilardell, M.4    Gallastegui, F.5
  • 5
    • 67349112868 scopus 로고    scopus 로고
    • Common genetic variants on 5p14.1 associate with autism spectrum disorders
    • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, et al. (2009) Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-533.
    • (2009) Nature , vol.459 , pp. 528-533
    • Wang, K.1    Zhang, H.2    Ma, D.3    Bucan, M.4    Glessner, J.T.5
  • 6
    • 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
    • Ye K, Schulz MH, Long Q, Apweiler R, Ning Z (2009) Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25: 2865-2871.
    • (2009) Bioinformatics , vol.25 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5
  • 7
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, et al. (2007) Paired-end mapping reveals extensive structural variation in the human genome. Science 318: 420-426.
    • (2007) Science , vol.318 , pp. 420-426
    • Korbel, J.O.1    Urban, A.E.2    Affourtit, J.P.3    Godwin, B.4    Grubert, F.5
  • 8
    • 58149218240 scopus 로고    scopus 로고
    • High-resolution mapping of copy-number alterations with massively parallel sequencing
    • 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.
    • (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
  • 9
    • 77950460950 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2009) Origins and functional impact of copy number variation in the human genome. Nature.
    • (2009) Nature
    • Conrad, D.F.1    Pinto, D.2    Redon, R.3    Feuk, L.4    Gokcumen, O.5
  • 10
    • 46949084088 scopus 로고    scopus 로고
    • Chromosomal aberration frequency in lymphocytes predicts the risk of cancer: Results from a pooled cohort study of 22 358 subjects in 11 countries
    • Bonassi S, Norppa H, Ceppi M, Stromberg U, Vermeulen R, et al. (2008) Chromosomal aberration frequency in lymphocytes predicts the risk of cancer: results from a pooled cohort study of 22 358 subjects in 11 countries. Carcinogenesis 29: 1178-1183.
    • (2008) Carcinogenesis , vol.29 , pp. 1178-1183
    • Bonassi, S.1    Norppa, H.2    Ceppi, M.3    Stromberg, U.4    Vermeulen, R.5
  • 11
    • 38749153571 scopus 로고    scopus 로고
    • Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly
    • Erdogan F, Belloso JM, Gabau E, Ajbro KD, Guitart M, et al. (2008) Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. Eur J Med Genet 51: 8186.
    • (2008) Eur J Med Genet , vol.51 , pp. 8186
    • Erdogan, F.1    Belloso, J.M.2    Gabau, E.3    Ajbro, K.D.4    Guitart, M.5
  • 12
    • 61649100746 scopus 로고    scopus 로고
    • Genomic microarrays in mental retardation: A practical workflow for diagnostic applications
    • Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, et al. (2009) Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 30: 283-292.
    • (2009) Hum Mutat , vol.30 , pp. 283-292
    • Koolen, D.A.1    Pfundt, R.2    de Leeuw, N.3    Hehir-Kwa, J.Y.4    Nillesen, W.M.5
  • 14
    • 53049090475 scopus 로고    scopus 로고
    • Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: Effects on population-based association studies
    • Yamaguchi-Kabata Y, Nakazono K, Takahashi A, Saito S, Hosono N, et al. (2008) Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. Am J Hum Genet 83: 445-456.
    • (2008) Am J Hum Genet , vol.83 , pp. 445-456
    • Yamaguchi-Kabata, Y.1    Nakazono, K.2    Takahashi, A.3    Saito, S.4    Hosono, N.5
  • 15
    • 33846531959 scopus 로고    scopus 로고
    • Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
    • Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, et al. (2007) Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 16: 1-14.
    • (2007) Hum Mol Genet , vol.16 , pp. 1-14
    • Simon-Sanchez, J.1    Scholz, S.2    Fung, H.C.3    Matarin, M.4    Hernandez, D.5
  • 17
    • 67651124806 scopus 로고    scopus 로고
    • Molecular genetic analysis of Down syndrome
    • Patterson D (2009) Molecular genetic analysis of Down syndrome. Hum Genet 126: 195-214.
    • (2009) Hum Genet , vol.126 , pp. 195-214
    • Patterson, D.1
  • 18
    • 0026504246 scopus 로고
    • Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome
    • Van Hemel JO, Eussen B, Wesby-van Swaay E, Oostra BA (1992) Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. Hum Genet 88: 661-667.
    • (1992) Hum Genet , vol.88 , pp. 661-667
    • van Hemel, J.O.1    Eussen, B.2    Wesby-Van, S.E.3    Oostra, B.A.4
  • 19
    • 33748272115 scopus 로고    scopus 로고
    • High-resolution genomic profiling ofchromosomal aberrations using Infinium whole-genome genotyping
    • Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, et al. (2006) High-resolution genomic profiling ofchromosomal aberrations using Infinium whole-genome genotyping. Genome Res 16: 1136-1148.
    • (2006) Genome Res , vol.16 , pp. 1136-1148
    • Peiffer, D.A.1    Le, J.M.2    Steemers, F.J.3    Chang, W.4    Jenniges, T.5
  • 21
    • 69249232047 scopus 로고    scopus 로고
    • A highly annotated whole-genome sequence of a Korean individual
    • Kim JI, Ju YS, Park H, Kim S, Lee S, et al. (2009) A highly annotated whole-genome sequence of a Korean individual. Nature 460: 1011-1015.
    • (2009) Nature , vol.460 , pp. 1011-1015
    • Kim, J.I.1    Ju, Y.S.2    Park, H.3    Kim, S.4    Lee, S.5
  • 22
    • 69749124820 scopus 로고    scopus 로고
    • The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group
    • Ahn SM, Kim TH, Lee S, Kim D, Ghang H, et al. (2009) The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res 19: 1622-1629.
    • (2009) Genome Res , vol.19 , pp. 1622-1629
    • Ahn, S.M.1    Kim, T.H.2    Lee, S.3    Kim, D.4    Ghang, H.5
  • 23
    • 34347354302 scopus 로고    scopus 로고
    • Mutational and selective effects on copy-number variants in the human genome
    • Cooper GM, Nickerson DA, Eichler EE (2007) Mutational and selective effects on copy-number variants in the human genome. Nat Genet 39: S22-29.
    • (2007) Nat Genet , vol.39
    • Cooper, G.M.1    Nickerson, D.A.2    Eichler, E.E.3
  • 25
    • 33847180205 scopus 로고    scopus 로고
    • Copy number increase of 1p36.33 and mitochondrial genome amplification in Epstein-Barr virus-transformed lymphoblastoid cell lines
    • Jeon JP, Shim SM, Nam HY, Baik SY, Kim JW, et al. (2007) Copy number increase of 1p36.33 and mitochondrial genome amplification in Epstein-Barr virus-transformed lymphoblastoid cell lines. Cancer Genet Cytogenet 173: 122-130.
    • (2007) Cancer Genet Cytogenet , vol.173 , pp. 122-130
    • Jeon, J.P.1    Shim, S.M.2    Nam, H.Y.3    Baik, S.Y.4    Kim, J.W.5
  • 26
    • 33749447692 scopus 로고    scopus 로고
    • SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population
    • Kim KJ, Lee HJ, Park MH, Cha SH, Kim KS, et al. (2006) SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population. Genomics 88: 535-540.
    • (2006) Genomics , vol.88 , pp. 535-540
    • Kim, K.J.1    Lee, H.J.2    Park, M.H.3    Cha, S.H.4    Kim, K.S.5
  • 27
    • 47649090861 scopus 로고    scopus 로고
    • Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population
    • Bae JS, Cheong HS, Kim JO, Lee SO, Kim EM, et al. (2008) Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population. Biochem Biophys Res Commun 373: 593-596.
    • (2008) Biochem Biophys Res Commun , vol.373 , pp. 593-596
    • Bae, J.S.1    Cheong, H.S.2    Kim, J.O.3    Lee, S.O.4    Kim, E.M.5
  • 28
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674.
    • (2007) Genome Res , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5
  • 30
    • 33747890811 scopus 로고    scopus 로고
    • Interpreting experimental results using gene ontologies
    • Beissbarth T (2006) Interpreting experimental results using gene ontologies. Methods Enzymol 411: 340-352.
    • (2006) Methods Enzymol , vol.411 , pp. 340-352
    • Beissbarth, T.1
  • 31
    • 3142665525 scopus 로고    scopus 로고
    • GOstat: Find statistically overrepresented Gene Ontologies within a group of genes
    • Beissbarth T, Speed TP (2004) GOstat: find statistically overrepresented Gene Ontologies within a group of genes. Bioinformatics 20: 1464-1465.
    • (2004) Bioinformatics , vol.20 , pp. 1464-1465
    • Beissbarth, T.1    Speed, T.P.2


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