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Volumn 77, Issue 3, 2010, Pages 201-213

Gene copy number variation and common human disease

Author keywords

Gene copy number; Gene deletion; Gene duplication; Human common diseases; Human genomic disorders

Indexed keywords

ACCURACY; AUTOIMMUNE DISEASE; CARDIOVASCULAR DISEASE; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE ASSOCIATION; GENE DOSAGE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GERM LINE; HUMAN; INFECTION; MALIGNANT NEOPLASTIC DISEASE; METABOLIC DISORDER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROLOGIC DISEASE; PATHOGENESIS; POPULATION GENETICS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; STATISTICAL ANALYSIS;

EID: 77950121267     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01342.x     Document Type: Review
Times cited : (91)

References (119)
  • 1
    • 43049146524 scopus 로고    scopus 로고
    • A HapMap harvest of insights into the genetics of common disease
    • Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 2008, 118:1590-1605.
    • (2008) J Clin Invest , vol.118 , pp. 1590-1605
    • Manolio, T.A.1    Brooks, L.D.2    Collins, F.S.3
  • 2
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science 2008, 322:881-888.
    • (2008) Science , vol.322 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 3
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    • McCarthy MI, Abecasis GR, Cardon LR. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008, 9:356-369.
    • (2008) Nat Rev Genet , vol.9 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3
  • 4
    • 0023795143 scopus 로고
    • Polymorphism of MHC class III genes: definition of restriction fragment linkage groups and evidence for frequent deletions and duplications
    • Ghanem N, Uring-Lambert B, Abbal M. Polymorphism of MHC class III genes: definition of restriction fragment linkage groups and evidence for frequent deletions and duplications. Hum Genet 1988, 79:209-218.
    • (1988) Hum Genet , vol.79 , pp. 209-218
    • Ghanem, N.1    Uring-Lambert, B.2    Abbal, M.3
  • 5
    • 33746741125 scopus 로고    scopus 로고
    • Copy number variation: new insights in genome diversity
    • Freeman JL, Perry GH, Feuk L. Copy number variation: new insights in genome diversity. Genome Res 2006, 16:949-961.
    • (2006) Genome Res , vol.16 , pp. 949-961
    • Freeman, J.L.1    Perry, G.H.2    Feuk, L.3
  • 7
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions
    • Cook EH, Scherer SW. Copy-number variations associated with neuropsychiatric conditions. Nature 2008, 455:919-923.
    • (2008) Nature , vol.455 , pp. 919-923
    • Cook, E.H.1    Scherer, S.W.2
  • 8
    • 19944430269 scopus 로고    scopus 로고
    • High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization
    • Zhang X, Snijders A, Segraves R. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet 2005, 76:312-326.
    • (2005) Am J Hum Genet , vol.76 , pp. 312-326
    • Zhang, X.1    Snijders, A.2    Segraves, R.3
  • 9
    • 22844446947 scopus 로고    scopus 로고
    • An integrative genomics approach to infer causal associations between gene expression and disease
    • Schadt EE, Lamb J, Yang X. An integrative genomics approach to infer causal associations between gene expression and disease. Nat Genet 2005, 37:710-717.
    • (2005) Nat Genet , vol.37 , pp. 710-717
    • Schadt, E.E.1    Lamb, J.2    Yang, X.3
  • 10
    • 0030818315 scopus 로고    scopus 로고
    • Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype
    • Campbell L, Potter A, Ignatius J. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997, 61:40-50.
    • (1997) Am J Hum Genet , vol.61 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3
  • 11
    • 0038756128 scopus 로고    scopus 로고
    • Human chromosome 7: DNA sequence and biology
    • Scherer SW, Cheung J, MacDonald JR. Human chromosome 7: DNA sequence and biology. Science 2003, 300:767-772.
    • (2003) Science , vol.300 , pp. 767-772
    • Scherer, S.W.1    Cheung, J.2    MacDonald, J.R.3
  • 12
    • 27744502885 scopus 로고    scopus 로고
    • Identification of disease genes by whole genome CGH arrays
    • 14 Spec No.
    • Vissers LE, Veltman JA, van Kessel AG. Identification of disease genes by whole genome CGH arrays. Hum Mol Genet 2005, 2:R215-R223. 14 Spec No.
    • (2005) Hum Mol Genet , vol.2
    • Vissers, L.E.1    Veltman, J.A.2    van Kessel, A.G.3
  • 13
    • 0037322882 scopus 로고    scopus 로고
    • Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. [erratum appears in Hum Mol Genet. 2004Feb 1;13(3):363].
    • Senderek J, Bergmann C, Weber S. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. [erratum appears in Hum Mol Genet. 2004Feb 1;13(3):363]. Hum Mol Genet 2003, 12:349-356.
    • (2003) Hum Mol Genet , vol.12 , pp. 349-356
    • Senderek, J.1    Bergmann, C.2    Weber, S.3
  • 14
    • 49449111926 scopus 로고    scopus 로고
    • Mechanisms of imprinting of the Prader-Willi/Angelman region
    • Horsthemke B, Wagstaff J. Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet Part A 2008, 146A:2041-2052.
    • (2008) Am J Med Genet Part A , vol.146 A , pp. 2041-2052
    • Horsthemke, B.1    Wagstaff, J.2
  • 15
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998, 14:417-422.
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 16
    • 0031892597 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: lessons in genetic mechanisms
    • Lupski JR. Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med 1998, 4:3-11.
    • (1998) Mol Med , vol.4 , pp. 3-11
    • Lupski, J.R.1
  • 17
  • 18
    • 0038757833 scopus 로고    scopus 로고
    • 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome
    • Toyo-oka K, Shionoya A, Gambello MJ. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet 2003, 34:274-285.
    • (2003) Nat Genet , vol.34 , pp. 274-285
    • Toyo-oka, K.1    Shionoya, A.2    Gambello, M.J.3
  • 19
    • 16944364251 scopus 로고    scopus 로고
    • Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
    • Carlson C, Sirotkin H, Pandita R. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 1997, 61:620-629.
    • (1997) Am J Hum Genet , vol.61 , pp. 620-629
    • Carlson, C.1    Sirotkin, H.2    Pandita, R.3
  • 20
    • 0032790898 scopus 로고    scopus 로고
    • A common molecular basis for rearrangement disorders on chromosome 22q11.[see comment].
    • Edelmann L, Pandita RK, Spiteri E. A common molecular basis for rearrangement disorders on chromosome 22q11.[see comment]. Hum Mol Genet 1999, 8:1157-1167.
    • (1999) Hum Mol Genet , vol.8 , pp. 1157-1167
    • Edelmann, L.1    Pandita, R.K.2    Spiteri, E.3
  • 21
    • 28144439211 scopus 로고    scopus 로고
    • Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination
    • Woodward KJ, Cundall M, Sperle K. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 2005, 77:966-987.
    • (2005) Am J Hum Genet , vol.77 , pp. 966-987
    • Woodward, K.J.1    Cundall, M.2    Sperle, K.3
  • 22
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.[see comment].
    • Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.[see comment]. Cell 2007, 131:1235-1247.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.3
  • 23
    • 67649973564 scopus 로고    scopus 로고
    • Genomic disorders ten years on
    • Lupski JR. Genomic disorders ten years on. Genome Med 2009, I:4.
    • (2009) Genome Med , vol.I , pp. 4
    • Lupski, J.R.1
  • 24
    • 67651098662 scopus 로고    scopus 로고
    • Mechanisms of change in gene copy number
    • Hastings PJ. Mechanisms of change in gene copy number. Nat Rev Genet 2009, 10:14.
    • (2009) Nat Rev Genet , vol.10 , pp. 14
    • Hastings, P.J.1
  • 25
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome.[see comment].
    • Iafrate AJ, Feuk L, Rivera MN. Detection of large-scale variation in the human genome.[see comment]. Nat Genet 2004, 36:949-951.
    • (2004) Nat Genet , vol.36 , pp. 949-951
    • Iafrate, A.J.1    Feuk, L.2    Rivera, M.N.3
  • 26
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3
  • 27
    • 3543040014 scopus 로고    scopus 로고
    • Complex SNP-related sequence variation in segmental genome duplications
    • Fredman D, White SJ, Potter S. Complex SNP-related sequence variation in segmental genome duplications. Nat Genet 2004, 36:861-866.
    • (2004) Nat Genet , vol.36 , pp. 861-866
    • Fredman, D.1    White, S.J.2    Potter, S.3
  • 28
    • 33746363353 scopus 로고    scopus 로고
    • Structural variants: changing the landscape of chromosomes and design of disease studies
    • 15 Spec No
    • Feuk L, Marshall CR, Wintle RF. Structural variants: changing the landscape of chromosomes and design of disease studies. Hum Mol Genet 2006, 1:R57-R66. 15 Spec No
    • (2006) Hum Mol Genet , vol.1
    • Feuk, L.1    Marshall, C.R.2    Wintle, R.F.3
  • 29
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR. Global variation in copy number in the human genome. Nature 2006, 444:444-454.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 30
    • 39749197456 scopus 로고    scopus 로고
    • Genotype, haplotype and copy-number variation in worldwide human populations
    • Jakobsson M, Scholz SW, Scheet P. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008, 451:998-1003.
    • (2008) Nature , vol.451 , pp. 998-1003
    • Jakobsson, M.1    Scholz, S.W.2    Scheet, P.3
  • 31
    • 33846978695 scopus 로고    scopus 로고
    • Relative impact of nucleotide and copy number variation on gene expression phenotypes
    • Stranger BE, Forrest MS, Dunning M. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 2007, 315:848-853.
    • (2007) Science , vol.315 , pp. 848-853
    • Stranger, B.E.1    Forrest, M.S.2    Dunning, M.3
  • 32
    • 63449117467 scopus 로고    scopus 로고
    • Segmental copy number variation shapes tissue transcriptomes
    • Henrichsen CN, Vinckenbosch N, Zollner S. Segmental copy number variation shapes tissue transcriptomes. Nat Genet 2009, 41:424-429.
    • (2009) Nat Genet , vol.41 , pp. 424-429
    • Henrichsen, C.N.1    Vinckenbosch, N.2    Zollner, S.3
  • 33
    • 63449086972 scopus 로고    scopus 로고
    • The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells
    • Cahan P, Li Y, Izumi M. The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells. Nat Genet 2009, 41:430-437.
    • (2009) Nat Genet , vol.41 , pp. 430-437
    • Cahan, P.1    Li, Y.2    Izumi, M.3
  • 34
    • 33751527925 scopus 로고    scopus 로고
    • Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
    • Zhang J, Feuk L, Duggan GE. Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res 2006, 115:205-214.
    • (2006) Cytogenet Genome Res , vol.115 , pp. 205-214
    • Zhang, J.1    Feuk, L.2    Duggan, G.E.3
  • 35
    • 64149099583 scopus 로고    scopus 로고
    • DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
    • Firth HV, Richards SM, Bevan AP. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 2009, 84:524-533.
    • (2009) Am J Hum Genet , vol.84 , pp. 524-533
    • Firth, H.V.1    Richards, S.M.2    Bevan, A.P.3
  • 36
    • 69749121852 scopus 로고    scopus 로고
    • High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
    • Shaikh TH, Gai X, Perin JC. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009, 19:1682-1690.
    • (2009) Genome Res , vol.19 , pp. 1682-1690
    • Shaikh, T.H.1    Gai, X.2    Perin, J.C.3
  • 37
    • 20044377204 scopus 로고    scopus 로고
    • The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.[see comment].
    • Gonzalez E, Kulkarni H, Bolivar H. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.[see comment]. Science 2005, 307:1434-1440.
    • (2005) Science , vol.307 , pp. 1434-1440
    • Gonzalez, E.1    Kulkarni, H.2    Bolivar, H.3
  • 38
    • 32844460938 scopus 로고    scopus 로고
    • Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.[see comment].
    • Aitman TJ, Dong R, Vyse TJ. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.[see comment]. Nature 2006, 439:851-855.
    • (2006) Nature , vol.439 , pp. 851-855
    • Aitman, T.J.1    Dong, R.2    Vyse, T.J.3
  • 39
    • 34249815834 scopus 로고    scopus 로고
    • FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
    • Fanciulli M, Norsworthy PJ, Petretto E. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007, 39:721-723.
    • (2007) Nat Genet , vol.39 , pp. 721-723
    • Fanciulli, M.1    Norsworthy, P.J.2    Petretto, E.3
  • 40
    • 46949096094 scopus 로고    scopus 로고
    • Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake
    • Willcocks LC, Lyons PA, Clatworthy MR. Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med 2008, 205:1573-1582.
    • (2008) J Exp Med , vol.205 , pp. 1573-1582
    • Willcocks, L.C.1    Lyons, P.A.2    Clatworthy, M.R.3
  • 41
  • 42
    • 16844371343 scopus 로고    scopus 로고
    • Frequency of new copy number variation in humans
    • van Ommen GJ. Frequency of new copy number variation in humans. Nat Genet 2005, 37:333-334.
    • (2005) Nat Genet , vol.37 , pp. 333-334
    • van Ommen, G.J.1
  • 43
    • 36248980204 scopus 로고    scopus 로고
    • Characterizing the cancer genome in lung adenocarcinoma
    • Weir BA, Woo MS, Getz G. Characterizing the cancer genome in lung adenocarcinoma. Nature 2007, 450:893-898.
    • (2007) Nature , vol.450 , pp. 893-898
    • Weir, B.A.1    Woo, M.S.2    Getz, G.3
  • 44
    • 34147224008 scopus 로고    scopus 로고
    • Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia.[see comment].
    • Mullighan CG, Goorha S, Radtke I. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia.[see comment]. Nature 2007, 446:758-764.
    • (2007) Nature , vol.446 , pp. 758-764
    • Mullighan, C.G.1    Goorha, S.2    Radtke, I.3
  • 45
    • 54549108740 scopus 로고    scopus 로고
    • Comprehensive genomic characterization defines human glioblastoma genes and core pathways
    • Cancer Genome Atlas Research Network
    • Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 2008, 455:1061-1068. Cancer Genome Atlas Research Network
    • (2008) Nature , vol.455 , pp. 1061-1068
  • 46
    • 58149328823 scopus 로고    scopus 로고
    • Extending genome-wide association studies to copy-number variation
    • McCarroll SA. Extending genome-wide association studies to copy-number variation. Hum Mol Genet 2008, 17:R135-R142.
    • (2008) Hum Mol Genet , vol.17
    • McCarroll, S.A.1
  • 47
    • 59749098567 scopus 로고    scopus 로고
    • Emerging themes and new challenges in defining the role of structural variation in human disease
    • Sharp AJ. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat 2009, 30:135-144.
    • (2009) Hum Mutat , vol.30 , pp. 135-144
    • Sharp, A.J.1
  • 48
    • 34347339520 scopus 로고    scopus 로고
    • Methods and strategies for analyzing copy number variation using DNA microarrays
    • Carter NP. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 2007, 39:S16-S21.
    • (2007) Nat Genet , vol.39
    • Carter, N.P.1
  • 49
    • 37549021474 scopus 로고    scopus 로고
    • Copy-number analysis goes more than skin deep.[comment].
    • McCarroll SA. Copy-number analysis goes more than skin deep.[comment]. Nat Genet 2008, 40:5-6.
    • (2008) Nat Genet , vol.40 , pp. 5-6
    • McCarroll, S.A.1
  • 50
    • 33847390726 scopus 로고    scopus 로고
    • Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
    • Armour JA, Palla R, Zeeuwen PL. Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res 2007, 35:e19.
    • (2007) Nucleic Acids Res , vol.35
    • Armour, J.A.1    Palla, R.2    Zeeuwen, P.L.3
  • 51
    • 37549033125 scopus 로고    scopus 로고
    • Psoriasis is associated with increased beta-defensin genomic copy number.[see comment].
    • Hollox EJ, Huffmeier U, Zeeuwen PL. Psoriasis is associated with increased beta-defensin genomic copy number.[see comment]. Nat Genet 2008, 40:23-25.
    • (2008) Nat Genet , vol.40 , pp. 23-25
    • Hollox, E.J.1    Huffmeier, U.2    Zeeuwen, P.L.3
  • 52
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: new techniques for detection of gene deletions
    • Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004, 23:413-419.
    • (2004) Hum Mutat , vol.23 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 53
    • 33751340401 scopus 로고    scopus 로고
    • Genome assembly comparison identifies structural variants in the human genome
    • Khaja R, Zhang J, MacDonald JR. Genome assembly comparison identifies structural variants in the human genome. Nat Genet 2006, 38:1413-1418.
    • (2006) Nat Genet , vol.38 , pp. 1413-1418
    • Khaja, R.1    Zhang, J.2    MacDonald, J.R.3
  • 54
    • 35648976118 scopus 로고    scopus 로고
    • The diploid genome sequence of an individual human
    • Levy S, Sutton G, Ng PC. The diploid genome sequence of an individual human. PLoS Biol 2007, 5:e254.
    • (2007) PLoS Biol , vol.5
    • Levy, S.1    Sutton, G.2    Ng, P.C.3
  • 55
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing.[see comment].
    • Wheeler DA, Srinivasan M, Egholm M. The complete genome of an individual by massively parallel DNA sequencing.[see comment]. Nature 2008, 452:872-876.
    • (2008) Nature , vol.452 , pp. 872-876
    • Wheeler, D.A.1    Srinivasan, M.2    Egholm, M.3
  • 56
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies M, Egholm M, Altman WE. Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005, 437:376-380.
    • (2005) Nature , vol.437 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3
  • 57
    • 33750953227 scopus 로고    scopus 로고
    • Whole-genome re-sequencing
    • Bentley DR. Whole-genome re-sequencing. Curr Opin Genet Dev 2006, 16:545-552.
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 545-552
    • Bentley, D.R.1
  • 58
    • 52949096084 scopus 로고    scopus 로고
    • Next-generation DNA sequencing methods
    • Mardis ER. Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 2008, 9:387-402.
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 387-402
    • Mardis, E.R.1
  • 59
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel JO, Urban AE, Affourtit JP. Paired-end mapping reveals extensive structural variation in the human genome. Science 2007, 318:420-426.
    • (2007) Science , vol.318 , pp. 420-426
    • Korbel, J.O.1    Urban, A.E.2    Affourtit, J.P.3
  • 60
    • 22844451617 scopus 로고    scopus 로고
    • Fine-scale structural variation of the human genome
    • Tuzun E, Sharp AJ, Bailey JA. Fine-scale structural variation of the human genome. Nat Genet 2005, 37:727-732.
    • (2005) Nat Genet , vol.37 , pp. 727-732
    • Tuzun, E.1    Sharp, A.J.2    Bailey, J.A.3
  • 61
    • 69749122557 scopus 로고    scopus 로고
    • Sensitive and accurate detection of copy number variants using read depth of coverage
    • Yoon S, Xuan Z, Makarov V. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res 2009, 19:1586-1592.
    • (2009) Genome Res , vol.19 , pp. 1586-1592
    • Yoon, S.1    Xuan, Z.2    Makarov, V.3
  • 62
    • 20044362567 scopus 로고    scopus 로고
    • Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis
    • Vermeesch JR, Melotte C, Froyen G. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 2005, 53:413-422.
    • (2005) J Histochem Cytochem , vol.53 , pp. 413-422
    • Vermeesch, J.R.1    Melotte, C.2    Froyen, G.3
  • 63
    • 3543105225 scopus 로고    scopus 로고
    • Circular binary segmentation for the analysis of array-based DNA copy number data
    • Olshen AB, Venkatraman ES, Lucito R. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 2004, 5:557-572.
    • (2004) Biostatistics , vol.5 , pp. 557-572
    • Olshen, A.B.1    Venkatraman, E.S.2    Lucito, R.3
  • 64
    • 20444435572 scopus 로고    scopus 로고
    • SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data
    • Price TS, Regan R, Mott R. SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data. Nucleic Acids Res 2005, 33:3455-3464.
    • (2005) Nucleic Acids Res , vol.33 , pp. 3455-3464
    • Price, T.S.1    Regan, R.2    Mott, R.3
  • 65
    • 33751349817 scopus 로고    scopus 로고
    • Accurate and reliable high-throughput detection of copy number variation in the human genome
    • Fiegler H, Redon R, Andrews D. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res 2006, 16:1566-1574.
    • (2006) Genome Res , vol.16 , pp. 1566-1574
    • Fiegler, H.1    Redon, R.2    Andrews, D.3
  • 66
    • 52949085789 scopus 로고    scopus 로고
    • Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    • Korn JM, Kuruvilla FG, McCarroll SA. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008, 40:1253-1260.
    • (2008) Nat Genet , vol.40 , pp. 1253-1260
    • Korn, J.M.1    Kuruvilla, F.G.2    McCarroll, S.A.3
  • 67
    • 29444441336 scopus 로고    scopus 로고
    • A high-resolution survey of deletion polymorphism in the human genome
    • Conrad DF, Andrews TD, Carter NP. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 2006, 38:75-81.
    • (2006) Nat Genet , vol.38 , pp. 75-81
    • Conrad, D.F.1    Andrews, T.D.2    Carter, N.P.3
  • 68
    • 52949129447 scopus 로고    scopus 로고
    • A robust statistical method for case-control association testing with copy number variation
    • Barnes C, Plagnol V, Fitzgerald T. A robust statistical method for case-control association testing with copy number variation. Nat Genet 2008, 40:1245-1252.
    • (2008) Nat Genet , vol.40 , pp. 1245-1252
    • Barnes, C.1    Plagnol, V.2    Fitzgerald, T.3
  • 69
    • 39549091294 scopus 로고    scopus 로고
    • Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis
    • McKinney C, Merriman ME, Chapman PT. Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis 2008, 67:409-413.
    • (2008) Ann Rheum Dis , vol.67 , pp. 409-413
    • McKinney, C.1    Merriman, M.E.2    Chapman, P.T.3
  • 70
    • 27644546712 scopus 로고    scopus 로고
    • Population structure, differential bias and genomic control in a large-scale, case-control association study
    • Clayton DG, Walker NM, Smyth DJ. Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat Genet 2005, 37:1243-1246.
    • (2005) Nat Genet , vol.37 , pp. 1243-1246
    • Clayton, D.G.1    Walker, N.M.2    Smyth, D.J.3
  • 71
    • 34347354302 scopus 로고    scopus 로고
    • Mutational and selective effects on copy-number variants in the human genome
    • Cooper GM, Nickerson DA, Eichler EE. Mutational and selective effects on copy-number variants in the human genome. Nat Genet 2007, 39:S22-S29.
    • (2007) Nat Genet , vol.39
    • Cooper, G.M.1    Nickerson, D.A.2    Eichler, E.E.3
  • 72
    • 22244433460 scopus 로고    scopus 로고
    • Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease
    • Burns JC, Shimizu C, Gonzalez E. Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease. J Infect Dis 2005, 192:344-349.
    • (2005) J Infect Dis , vol.192 , pp. 344-349
    • Burns, J.C.1    Shimizu, C.2    Gonzalez, E.3
  • 73
    • 62549144898 scopus 로고    scopus 로고
    • HIV-1/AIDS susceptibility and copy number variation in CCL3L1, a gene encoding a natural ligand for HIV-1 co-receptor CCR5
    • Nakajima T, Kaur G, Mehra N. HIV-1/AIDS susceptibility and copy number variation in CCL3L1, a gene encoding a natural ligand for HIV-1 co-receptor CCR5. Cytogenet Genome Res 2008, 123:156-160.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 156-160
    • Nakajima, T.1    Kaur, G.2    Mehra, N.3
  • 74
    • 33748558056 scopus 로고    scopus 로고
    • A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
    • Fellermann K, Stange DE, Schaeffeler E. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet 2006, 79:439-448.
    • (2006) Am J Hum Genet , vol.79 , pp. 439-448
    • Fellermann, K.1    Stange, D.E.2    Schaeffeler, E.3
  • 75
    • 62549086059 scopus 로고    scopus 로고
    • Copy number variation of Fc gamma receptor genes and disease predisposition
    • Fanciulli M, Vyse TJ, Aitman TJ. Copy number variation of Fc gamma receptor genes and disease predisposition. Cytogenet Genome Res 2008, 123:161-168.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 161-168
    • Fanciulli, M.1    Vyse, T.J.2    Aitman, T.J.3
  • 76
    • 61649092570 scopus 로고    scopus 로고
    • An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus
    • Hollox EJ, Detering JC, Dehnugara T. An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus. Hum Mutat 2009, 30:477-484.
    • (2009) Hum Mutat , vol.30 , pp. 477-484
    • Hollox, E.J.1    Detering, J.C.2    Dehnugara, T.3
  • 77
    • 50449091647 scopus 로고    scopus 로고
    • Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    • McCarroll SA, Huett A, Kuballa P. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet 2008, 40:1107-1112.
    • (2008) Nat Genet , vol.40 , pp. 1107-1112
    • McCarroll, S.A.1    Huett, A.2    Kuballa, P.3
  • 78
    • 34250841166 scopus 로고    scopus 로고
    • Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans
    • Yang Y, Chung EK, Wu YL. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 2007, 80:1037-1054.
    • (2007) Am J Hum Genet , vol.80 , pp. 1037-1054
    • Yang, Y.1    Chung, E.K.2    Wu, Y.L.3
  • 79
    • 0034948080 scopus 로고    scopus 로고
    • Glutathione S-transferase genotypes and allergic responses to diisocyanate exposure
    • Piirila P, Wikman H, Luukkonen R. Glutathione S-transferase genotypes and allergic responses to diisocyanate exposure. Pharmacogenetics 2001, 11:437-445.
    • (2001) Pharmacogenetics , vol.11 , pp. 437-445
    • Piirila, P.1    Wikman, H.2    Luukkonen, R.3
  • 80
    • 0036166672 scopus 로고    scopus 로고
    • Glutathione- S-transferase micro and theta gene polymorphisms as new risk factors of atopic bronchial asthma
    • Ivaschenko TE, Sideleva OG, Baranov VS. Glutathione- S-transferase micro and theta gene polymorphisms as new risk factors of atopic bronchial asthma. J Mol Med 2002, 80:39-43.
    • (2002) J Mol Med , vol.80 , pp. 39-43
    • Ivaschenko, T.E.1    Sideleva, O.G.2    Baranov, V.S.3
  • 81
    • 4143132283 scopus 로고    scopus 로고
    • Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers
    • Brasch-Andersen C, Christiansen L, Tan Q. Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers. Hum Mutat 2004, 24:208-214.
    • (2004) Hum Mutat , vol.24 , pp. 208-214
    • Brasch-Andersen, C.1    Christiansen, L.2    Tan, Q.3
  • 82
    • 0034031911 scopus 로고    scopus 로고
    • Polymorphism at the glutathione S-transferase GSTP1 locus. A new marker for bronchial hyperresponsiveness and asthma.
    • Fryer AA, Bianco A, Hepple M. Polymorphism at the glutathione S-transferase GSTP1 locus. A new marker for bronchial hyperresponsiveness and asthma. Am J Respir Crit Care Med 2000, 161:1437-1442.
    • (2000) Am J Respir Crit Care Med , vol.161 , pp. 1437-1442
    • Fryer, A.A.1    Bianco, A.2    Hepple, M.3
  • 83
    • 33749043929 scopus 로고    scopus 로고
    • Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
    • Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006, 52:103-121.
    • (2006) Neuron , vol.52 , pp. 103-121
    • Lee, J.A.1    Lupski, J.R.2
  • 84
    • 62549160934 scopus 로고    scopus 로고
    • CNV and nervous system diseases-what's new?
    • Gu W, Lupski JR. CNV and nervous system diseases-what's new? Cytogenet Genome Res 2008, 123:54-64.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 54-64
    • Gu, W.1    Lupski, J.R.2
  • 85
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat J, Lakshmi B, Malhotra D. Strong association of de novo copy number mutations with autism. Science 2007, 316:445-449.
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3
  • 86
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements.[erratum appears in Nat Genet.
    • Autism Genome Project Consortium, Szatmari P, Paterson AD et al., Oct;39(10):1285 Note: Meyer, Kacie J [added]; Koop, Frederike [corrected to Koop, Frederieke]; Langemeijer, Marjolijn [corrected to Langemeijer, Marjolein]; Hijimans, Channa [corrected to Hijmans, Channa]].
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements.[erratum appears in Nat Genet. Nat Genet 2007, 39:319-328. Autism Genome Project Consortium, Szatmari P, Paterson AD et al., Oct;39(10):1285 Note: Meyer, Kacie J [added]; Koop, Frederike [corrected to Koop, Frederieke]; Langemeijer, Marjolijn [corrected to Langemeijer, Marjolein]; Hijimans, Channa [corrected to Hijmans, Channa]].
    • (2007) Nat Genet , vol.39 , pp. 319-328
  • 87
    • 40749089626 scopus 로고    scopus 로고
    • Structural variation of chromosomes in autism spectrum disorder
    • Marshall CR, Noor A, Vincent JB. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008, 82:477-488.
    • (2008) Am J Hum Genet , vol.82 , pp. 477-488
    • Marshall, C.R.1    Noor, A.2    Vincent, J.B.3
  • 88
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism. [see comment].
    • Weiss LA, Shen Y, Korn JM. Association between microdeletion and microduplication at 16p11.2 and autism. [see comment]. N Engl J Med 2008, 358:667-675.
    • (2008) N Engl J Med , vol.358 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3
  • 89
    • 38849126088 scopus 로고    scopus 로고
    • Recurrent 16p11.2 microdeletions in autism.
    • Kumar RA, KaraMohamed S, Sudi J. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008, 17:628-638.
    • (2008) Hum Mol Genet , vol.17 , pp. 628-638
    • Kumar, R.A.1    KaraMohamed, S.2    Sudi, J.3
  • 90
    • 42349088634 scopus 로고    scopus 로고
    • Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.[see comment].
    • Walsh T, McClellan JM, McCarthy SE. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.[see comment]. Science 2008, 320:539-543.
    • (2008) Science , vol.320 , pp. 539-543
    • Walsh, T.1    McClellan, J.M.2    McCarthy, S.E.3
  • 91
    • 46249093584 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with sporadic schizophrenia
    • Xu B, Roos JL, Levy S. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 2008, 40:880-885.
    • (2008) Nat Genet , vol.40 , pp. 880-885
    • Xu, B.1    Roos, J.L.2    Levy, S.3
  • 92
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia.[see comment].
    • International Schizophrenia Consortium
    • Rare chromosomal deletions and duplications increase risk of schizophrenia.[see comment]. Nature 2008, 455:237-241. International Schizophrenia Consortium
    • (2008) Nature , vol.455 , pp. 237-241
  • 93
    • 49949085933 scopus 로고    scopus 로고
    • Large recurrent microdeletions associated with schizophrenia.[see comment].
    • Stefansson H, Rujescu D, Cichon S. Large recurrent microdeletions associated with schizophrenia.[see comment]. Nature 2008, 455:232-236.
    • (2008) Nature , vol.455 , pp. 232-236
    • Stefansson, H.1    Rujescu, D.2    Cichon, S.3
  • 94
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
    • Helbig I, Mefford HC, Sharp AJ. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009, 41:160-162.
    • (2009) Nat Genet , vol.41 , pp. 160-162
    • Helbig, I.1    Mefford, H.C.2    Sharp, A.J.3
  • 95
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.[see comment].
    • Rovelet-Lecrux A, Hannequin D, Raux G. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.[see comment]. Nat Genet 2006, 38:24-26.
    • (2006) Nat Genet , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3
  • 97
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
    • Vorstman JA, Staal WG, van Daalen E. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006, 11:1.
    • (2006) Mol Psychiatry , vol.11 , pp. 1
    • Vorstman, J.A.1    Staal, W.G.2    van Daalen, E.3
  • 98
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.[see comment].
    • Mefford HC, Sharp AJ, Baker C. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.[see comment]. N Eng J Med 2008, 359:1685-1699.
    • (2008) N Eng J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3
  • 99
    • 0242300619 scopus 로고    scopus 로고
    • Alpha-synuclein locus triplication causes Parkinson's disease
    • Singleton AB, Farrer M, Johnson J. Alpha-synuclein locus triplication causes Parkinson's disease. Science 2003, 302:841.
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3
  • 100
    • 4644236043 scopus 로고    scopus 로고
    • Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. [see comment].
    • Ibanez P, Bonnet AM, Debarges B. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. [see comment]. Lancet 2004, 364:1169-1171.
    • (2004) Lancet , vol.364 , pp. 1169-1171
    • Ibanez, P.1    Bonnet, A.M.2    Debarges, B.3
  • 101
    • 46749144187 scopus 로고    scopus 로고
    • Genomic investigation of alpha-synuclein multiplication and parkinsonism
    • Ross OA, Braithwaite AT, Skipper LM. Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol 2008, 63:743-750.
    • (2008) Ann Neurol , vol.63 , pp. 743-750
    • Ross, O.A.1    Braithwaite, A.T.2    Skipper, L.M.3
  • 102
    • 40849141981 scopus 로고    scopus 로고
    • Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.[see comment].
    • Blauw HM, Veldink JH, van Es MA. Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.[see comment]. Lancet Neurol 2008, 7:319-326.
    • (2008) Lancet Neurol , vol.7 , pp. 319-326
    • Blauw, H.M.1    Veldink, J.H.2    van Es, M.A.3
  • 103
    • 54449094741 scopus 로고    scopus 로고
    • Analysis of genome-wide copy number variation in Irish and Dutch ALS populations
    • Cronin S, Blauw HM, Veldink JH. Analysis of genome-wide copy number variation in Irish and Dutch ALS populations. Hum Mol Genet 2008, 17:3392-3398.
    • (2008) Hum Mol Genet , vol.17 , pp. 3392-3398
    • Cronin, S.1    Blauw, H.M.2    Veldink, J.H.3
  • 104
    • 0035957312 scopus 로고    scopus 로고
    • Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
    • Veldink JH, van den Berg LH, Cobben JM. Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 2001, 56:749-752.
    • (2001) Neurology , vol.56 , pp. 749-752
    • Veldink, J.H.1    van den Berg, L.H.2    Cobben, J.M.3
  • 105
    • 7944238044 scopus 로고    scopus 로고
    • Somatic alterations in the human cancer genome
    • Weir B, Zhao X, Meyerson M. Somatic alterations in the human cancer genome. Cancer Cell 2004, 6:433-438.
    • (2004) Cancer Cell , vol.6 , pp. 433-438
    • Weir, B.1    Zhao, X.2    Meyerson, M.3
  • 106
    • 3242672465 scopus 로고    scopus 로고
    • Whole genome scanning identifies genotypes associated with recurrence and metastasis in prostate tumors
    • Paris PL, Andaya A, Fridlyand J. Whole genome scanning identifies genotypes associated with recurrence and metastasis in prostate tumors. Hum Mol Genet 2004, 13:1303-1313.
    • (2004) Hum Mol Genet , vol.13 , pp. 1303-1313
    • Paris, P.L.1    Andaya, A.2    Fridlyand, J.3
  • 107
    • 55849099654 scopus 로고    scopus 로고
    • Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers
    • Leary RJ, Lin JC, Cummins J. Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers. Proc Natl Acad Sci U S A 2008, 105:16224-16229.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 16224-16229
    • Leary, R.J.1    Lin, J.C.2    Cummins, J.3
  • 108
    • 67649289900 scopus 로고    scopus 로고
    • Copy number variation at 1q21.1 associated with neuroblastoma.
    • Diskin SJ. Copy number variation at 1q21.1 associated with neuroblastoma. Nature 2009, 459:987-991.
    • (2009) Nature , vol.459 , pp. 987-991
    • Diskin, S.J.1
  • 109
    • 65549150968 scopus 로고    scopus 로고
    • Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer.
    • Liu W, Sun J, Li G. Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer. Cancer Res 2009, 69:2176-2179.
    • (2009) Cancer Res , vol.69 , pp. 2176-2179
    • Liu, W.1    Sun, J.2    Li, G.3
  • 110
    • 49649110984 scopus 로고    scopus 로고
    • Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome
    • Shlien A, Tabori U, Marshall CR. Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A 2008, 105:11264-11269.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 11264-11269
    • Shlien, A.1    Tabori, U.2    Marshall, C.R.3
  • 111
    • 0015043748 scopus 로고
    • Mutation and cancer: statistical study of retinoblastoma
    • Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971, 68:820-823.
    • (1971) Proc Natl Acad Sci U S A , vol.68 , pp. 820-823
    • Knudson, A.G.1
  • 112
    • 62549121231 scopus 로고    scopus 로고
    • Copy number variation in metabolic phenotypes
    • Lanktree M, Hegele RA. Copy number variation in metabolic phenotypes. Cytogenet Genome Res 2008, 123:169-175.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 169-175
    • Lanktree, M.1    Hegele, R.A.2
  • 113
    • 13944252816 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia
    • Wang J, Ban MR, Hegele RA. Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J Lipid Res 2005, 46:366-372.
    • (2005) J Lipid Res , vol.46 , pp. 366-372
    • Wang, J.1    Ban, M.R.2    Hegele, R.A.3
  • 114
    • 34648860539 scopus 로고    scopus 로고
    • Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic
    • Tosi I, Toledo-Leiva P, Neuwirth C. Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. Atherosclerosis 2007, 194:102-111.
    • (2007) Atherosclerosis , vol.194 , pp. 102-111
    • Tosi, I.1    Toledo-Leiva, P.2    Neuwirth, C.3
  • 115
    • 70749096913 scopus 로고    scopus 로고
    • Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    • Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF et al.
    • Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 2009, 41:334-341. Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF et al.
    • (2009) Nat Genet , vol.41 , pp. 334-341
  • 116
    • 0035949724 scopus 로고    scopus 로고
    • Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes
    • Taddei I, Morishima M, Huynh T. Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc Natl Acad Sci U S A 2001, 98:11428-11431.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 11428-11431
    • Taddei, I.1    Morishima, M.2    Huynh, T.3
  • 117
    • 33846562388 scopus 로고    scopus 로고
    • Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
    • Klopocki E, Schulze H, Strauss G. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007, 80:232-240.
    • (2007) Am J Hum Genet , vol.80 , pp. 232-240
    • Klopocki, E.1    Schulze, H.2    Strauss, G.3
  • 118
    • 51549095601 scopus 로고    scopus 로고
    • Somatic mosaicism for copy number variation in differentiated human tissues
    • Piotrowski A, Bruder CE, Andersson R. Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 2008, 29:1118-1124.
    • (2008) Hum Mutat , vol.29 , pp. 1118-1124
    • Piotrowski, A.1    Bruder, C.E.2    Andersson, R.3
  • 119
    • 40849109768 scopus 로고    scopus 로고
    • Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
    • Bruder CE, Piotrowski A, Gijsbers AA. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008, 82:763-771.
    • (2008) Am J Hum Genet , vol.82 , pp. 763-771
    • Bruder, C.E.1    Piotrowski, A.2    Gijsbers, A.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.