메뉴 건너뛰기




Volumn 8, Issue 8, 2007, Pages 639-646

Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; GENOMIC DNA; MEMBRANE COFACTOR PROTEIN;

EID: 34447569298     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg2149     Document Type: Review
Times cited : (358)

References (94)
  • 1
    • 0007758208 scopus 로고
    • Polymorphism of DNA sequence adjacent to human β-globin structural gene: Relationship to sickle mutation
    • Kan, Y. W. & Dozy, A. M. Polymorphism of DNA sequence adjacent to human β-globin structural gene: relationship to sickle mutation. Proc. Natl Acad. Sci. USA 75, 5631-5635 (1978).
    • (1978) Proc. Natl Acad. Sci. USA , vol.75 , pp. 5631-5635
    • Kan, Y.W.1    Dozy, A.M.2
  • 2
    • 0019254797 scopus 로고
    • A highly polymorphic locus in human DNA
    • Wyman, A. R. & White, R. A highly polymorphic locus in human DNA. Proc. Natl Acad. Sci. USA 77, 6754-6758 (1980).
    • (1980) Proc. Natl Acad. Sci. USA , vol.77 , pp. 6754-6758
    • Wyman, A.R.1    White, R.2
  • 3
    • 0021979069 scopus 로고
    • Hypervariable 'minisatellite' regions in human DNA
    • Jeffreys, A. J., Wilson, V. & Thein, S. L. Hypervariable 'minisatellite' regions in human DNA. Nature 314, 67-73 (1985).
    • (1985) Nature , vol.314 , pp. 67-73
    • Jeffreys, A.J.1    Wilson, V.2    Thein, S.L.3
  • 4
    • 0022262808 scopus 로고
    • Individual-specific 'fingerprints' of human DNA
    • Jeffreys, A. J., Wilson, V. & Thein, S. L. Individual-specific 'fingerprints' of human DNA. Nature 316, 76-79 (1985).
    • (1985) Nature , vol.316 , pp. 76-79
    • Jeffreys, A.J.1    Wilson, V.2    Thein, S.L.3
  • 5
    • 0023104845 scopus 로고
    • Variable number of tandem repeat (VNTR) markers for human gene mapping
    • Nakamura, Y. et al. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235, 1616-1622 (1987).
    • (1987) Science , vol.235 , pp. 1616-1622
    • Nakamura, Y.1
  • 6
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    • Botstein, D., White, R. L., Skolnick, M. & Davis, R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32, 314-331 (1980).
    • (1980) Am. J. Hum. Genet , vol.32 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 7
    • 0024514081 scopus 로고    scopus 로고
    • Litt, M. & Luty, J. A. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet. 44, 397-401 (1989).
    • Litt, M. & Luty, J. A. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet. 44, 397-401 (1989).
  • 8
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber, J. L. & May, P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44, 388-396 (1989).
    • (1989) Am. J. Hum. Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 9
    • 0024387394 scopus 로고
    • Hypervariability of simple sequences as a general source for polymorphic DNA markers
    • Tautz, D. Hypervariability of simple sequences as a general source for polymorphic DNA markers. Nucleic Acids Res. 17, 6463-6471 (1989).
    • (1989) Nucleic Acids Res , vol.17 , pp. 6463-6471
    • Tautz, D.1
  • 10
    • 0024455993 scopus 로고
    • Use of variable simple sequence motifs as genetic markers: Application to study of myotonic dystrophy
    • Smeets, H. J., Brunner, H. G., Ropers, H. H. & Wieringa, B. Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy. Hum. Genet. 83, 245-251 (1989).
    • (1989) Hum. Genet , vol.83 , pp. 245-251
    • Smeets, H.J.1    Brunner, H.G.2    Ropers, H.H.3    Wieringa, B.4
  • 11
    • 0025691615 scopus 로고
    • Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms
    • Williamson, R. et al. Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. Cytogenet. Cell Genet. 55, 457-778 (1990).
    • (1990) Cytogenet. Cell Genet , vol.55 , pp. 457-778
    • Williamson, R.1
  • 12
    • 0025246222 scopus 로고
    • The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome
    • Economou, E. P., Bergen, A. W., Warren, A. C. & Antonarakis, S. E. The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc. Natl Acad. Sci. USA 87, 2951-2954 (1990).
    • (1990) Proc. Natl Acad. Sci. USA , vol.87 , pp. 2951-2954
    • Economou, E.P.1    Bergen, A.W.2    Warren, A.C.3    Antonarakis, S.E.4
  • 13
    • 0025219206 scopus 로고
    • Large restriction fragments containing poly-TG are highly polymorphic in a variety of vertebrates
    • Kashi, Y. et al. Large restriction fragments containing poly-TG are highly polymorphic in a variety of vertebrates. Nucleic Acids Res. 18, 1129-1132 (1990).
    • (1990) Nucleic Acids Res , vol.18 , pp. 1129-1132
    • Kashi, Y.1
  • 14
    • 0026518648 scopus 로고
    • Survey of human and rat microsatellites
    • Beckmann, J. S. & Weber, J. L. Survey of human and rat microsatellites. Genomics 12, 627-631 (1992).
    • (1992) Genomics , vol.12 , pp. 627-631
    • Beckmann, J.S.1    Weber, J.L.2
  • 15
    • 0026446099 scopus 로고
    • A second-generation linkage map of the human genome
    • Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794-801 (1992).
    • (1992) Nature , vol.359 , pp. 794-801
    • Weissenbach, J.1
  • 16
    • 0027942568 scopus 로고
    • A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)
    • Murray, J. C. et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 265, 2049-2054 (1994).
    • (1994) Science , vol.265 , pp. 2049-2054
    • Murray, J.C.1
  • 17
    • 0028231090 scopus 로고
    • The 1993-94 Genethon human genetic linkage map
    • Gyapay, G. et al. The 1993-94 Genethon human genetic linkage map. Nature Genet. 7, 246-339 (1994).
    • (1994) Nature Genet , vol.7 , pp. 246-339
    • Gyapay, G.1
  • 18
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152-154 (1996).
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1
  • 19
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap Consortium
    • The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 20
    • 33845350493 scopus 로고    scopus 로고
    • Single nucleotide polymorphism array analysis of cancer
    • Dutt, A. & Beroukhim, R. Single nucleotide polymorphism array analysis of cancer. Curr. Opin. Oncol. 19, 43-49 (2007).
    • (2007) Curr. Opin. Oncol , vol.19 , pp. 43-49
    • Dutt, A.1    Beroukhim, R.2
  • 21
    • 2542446307 scopus 로고    scopus 로고
    • Isolates and their potential use in complex gene mapping efforts
    • Varilo, T. & Peltonen, L. Isolates and their potential use in complex gene mapping efforts. Curr. Opin. Genet. Dev. 14, 316-323 (2004).
    • (2004) Curr. Opin. Genet. Dev , vol.14 , pp. 316-323
    • Varilo, T.1    Peltonen, L.2
  • 22
    • 33748786787 scopus 로고    scopus 로고
    • Genetic relatedness analysis: Modern data and new challenges
    • Weir, B. S., Anderson, A. D. & Hepler, A. B. Genetic relatedness analysis: modern data and new challenges. Nature Rev. Genet. 7, 771-780 (2006).
    • (2006) Nature Rev. Genet , vol.7 , pp. 771-780
    • Weir, B.S.1    Anderson, A.D.2    Hepler, A.B.3
  • 23
    • 0027248861 scopus 로고
    • Uniparental disomy revisited: The first twelve years
    • Engel, E. Uniparental disomy revisited: the first twelve years. Am. J. Med. Genet. 46, 670-674 (1993).
    • (1993) Am. J. Med. Genet , vol.46 , pp. 670-674
    • Engel, E.1
  • 24
    • 0025907673 scopus 로고
    • Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group
    • Antonarakis, S. E. Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group. N. Engl. J. Med. 324, 872-876 (1991).
    • (1991) N. Engl. J. Med , vol.324 , pp. 872-876
    • Antonarakis, S.E.1
  • 25
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • The Wellcome Trust Case Control Consortium
    • The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
    • (2007) Nature , vol.447 , pp. 661-678
  • 26
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards, A. O. et al. Complement factor H polymorphism and age-related macular degeneration. Science 308, 421-424 (2005).
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1
  • 27
    • 21044453724 scopus 로고    scopus 로고
    • A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    • Hageman, G. S. et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc. Natl Acad. Sci. USA 102, 7227-7232 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 7227-7232
    • Hageman, G.S.1
  • 28
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines, J. L. et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 308, 419-421 (2005).
    • (2005) Science , vol.308 , pp. 419-421
    • Haines, J.L.1
  • 29
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein, R. J. et al. Complement factor H polymorphism in age-related macular degeneration. Science 308, 385-389 (2005).
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1
  • 30
    • 12144291502 scopus 로고    scopus 로고
    • A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
    • Bottini, N. et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nature Genet. 36, 337-338 (2004).
    • (2004) Nature Genet , vol.36 , pp. 337-338
    • Bottini, N.1
  • 31
    • 33745240931 scopus 로고    scopus 로고
    • A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region
    • Smyth, D. J. et al. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nature Genet. 38, 617-619 (2006).
    • (2006) Nature Genet , vol.38 , pp. 617-619
    • Smyth, D.J.1
  • 32
    • 32544451924 scopus 로고    scopus 로고
    • Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    • Grant, S. F. et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genet. 38, 320-323 (2006).
    • (2006) Nature Genet , vol.38 , pp. 320-323
    • Grant, S.F.1
  • 33
    • 33847176604 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel risk loci for type 2 diabetes
    • Sladek, R. et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445, 881-885 (2007).
    • (2007) Nature , vol.445 , pp. 881-885
    • Sladek, R.1
  • 34
    • 34249885875 scopus 로고    scopus 로고
    • A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    • Scott, L. J. et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316, 1341-1345 (2007).
    • (2007) Science , vol.316 , pp. 1341-1345
    • Scott, L.J.1
  • 35
    • 34249895023 scopus 로고    scopus 로고
    • Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    • Zeggini, E. et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316, 1336-1341 (2007).
    • (2007) Science , vol.316 , pp. 1336-1341
    • Zeggini, E.1
  • 36
    • 34249888775 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    • Saxena, R. et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316, 1331-1336 (2007).
    • (2007) Science , vol.316 , pp. 1331-1336
    • Saxena, R.1
  • 37
    • 34447530040 scopus 로고    scopus 로고
    • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
    • Todd, J. A. et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genet. 53, 1884-1889 (2007).
    • (2007) Nature Genet , vol.53 , pp. 1884-1889
    • Todd, J.A.1
  • 38
    • 34248594090 scopus 로고    scopus 로고
    • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    • Frayling, T. M. et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316, 889-894 (2007).
    • (2007) Science , vol.316 , pp. 889-894
    • Frayling, T.M.1
  • 39
    • 34249777814 scopus 로고    scopus 로고
    • Variation in FTO contributes to childhood obesity and severe adult obesity
    • Dina, C. et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nature Genet. 39, 724-726 (2007).
    • (2007) Nature Genet , vol.39 , pp. 724-726
    • Dina, C.1
  • 40
    • 34250010480 scopus 로고    scopus 로고
    • A common variant on chromosome 9p21 affects the risk of myocardial infarction
    • Helgadottir, A. et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 316, 1491-1493 (2007).
    • (2007) Science , vol.316 , pp. 1491-1493
    • Helgadottir, A.1
  • 41
    • 34249996115 scopus 로고    scopus 로고
    • A common allele on chromosome 9 associated with coronary heart disease
    • McPherson, R. et al. A common allele on chromosome 9 associated with coronary heart disease. Science 316, 1488-1491 (2007).
    • (2007) Science , vol.316 , pp. 1488-1491
    • McPherson, R.1
  • 42
    • 34247563453 scopus 로고    scopus 로고
    • Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
    • Gudmundsson, J. et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nature Genet. 39, 631-637 (2007).
    • (2007) Nature Genet , vol.39 , pp. 631-637
    • Gudmundsson, J.1
  • 43
    • 34447299666 scopus 로고    scopus 로고
    • Compelling evidence for a prostate cancer gene at 22q12. 3 by the International Consortium for Prostate Cancer Genetics
    • Camp, N. J. et al. Compelling evidence for a prostate cancer gene at 22q12. 3 by the International Consortium for Prostate Cancer Genetics. Hum. Mol. Genet. 16, 1271-1278 (2007).
    • (2007) Hum. Mol. Genet , vol.16 , pp. 1271-1278
    • Camp, N.J.1
  • 44
    • 34250001297 scopus 로고    scopus 로고
    • A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
    • Hunter, D. J. et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nature Genet. 39, 870-874 (2007).
    • (2007) Nature Genet , vol.39 , pp. 870-874
    • Hunter, D.J.1
  • 45
    • 34250006413 scopus 로고    scopus 로고
    • Genome-wide association study identifies novel breast cancer susceptibility loci
    • Easton, D. F. et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087-1093 (2007).
    • (2007) Nature , vol.447 , pp. 1087-1093
    • Easton, D.F.1
  • 46
    • 34250002140 scopus 로고    scopus 로고
    • Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
    • Stacey, S. N. et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nature Genet. 39, 865-869 (2007).
    • (2007) Nature Genet , vol.39 , pp. 865-869
    • Stacey, S.N.1
  • 47
    • 0039276808 scopus 로고
    • Triplicated α-globin loci in humans
    • Goossens, M. et al. Triplicated α-globin loci in humans. Proc. Natl Acad. Sci. USA 77, 518-521 (1980).
    • (1980) Proc. Natl Acad. Sci. USA , vol.77 , pp. 518-521
    • Goossens, M.1
  • 48
    • 0016691182 scopus 로고
    • Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural loci
    • Kan, Y. W. et al. Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural loci. Nature 255, 255-256 (1975).
    • (1975) Nature , vol.255 , pp. 255-256
    • Kan, Y.W.1
  • 49
    • 0023764551 scopus 로고
    • Tandem array of human visual pigment genes at Xq28
    • Vollrath, D., Nathans, J. & Davis, R. W. Tandem array of human visual pigment genes at Xq28. Science 240, 1669-1672 (1988).
    • (1988) Science , vol.240 , pp. 1669-1672
    • Vollrath, D.1    Nathans, J.2    Davis, R.W.3
  • 50
    • 0024552624 scopus 로고
    • Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry
    • Drummond-Borg, M., Deeb, S. S. & Motulsky, A. G. Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. Proc. Natl Acad. Sci. USA 86, 983-987 (1989).
    • (1989) Proc. Natl Acad. Sci. USA , vol.86 , pp. 983-987
    • Drummond-Borg, M.1    Deeb, S.S.2    Motulsky, A.G.3
  • 51
    • 0034659823 scopus 로고    scopus 로고
    • RHD gene deletion occurred in the Rhesus box
    • Wagner, F. F. & Flegel, W. A. RHD gene deletion occurred in the Rhesus box. Blood 95, 3662-3668 (2000).
    • (2000) Blood , vol.95 , pp. 3662-3668
    • Wagner, F.F.1    Flegel, W.A.2
  • 52
    • 0034028921 scopus 로고    scopus 로고
    • Structure of chromosomal duplicons and their role in mediating human genomic disorders
    • Ji, Y., Eichler, E. E., Schwartz, S. & Nicholls, R. D. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res. 10, 597-610 (2000).
    • (2000) Genome Res , vol.10 , pp. 597-610
    • Ji, Y.1    Eichler, E.E.2    Schwartz, S.3    Nicholls, R.D.4
  • 53
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski, J. R. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219-232 (1991).
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1
  • 54
    • 33749043929 scopus 로고    scopus 로고
    • Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
    • Lee, J. A. & Lupski, J. R. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52, 103-121 (2006).
    • (2006) Neuron , vol.52 , pp. 103-121
    • Lee, J.A.1    Lupski, J.R.2
  • 55
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • Iafrate, A. J. et al. Detection of large-scale variation in the human genome. Nature Genet. 36, 949-951 (2004).
    • (2004) Nature Genet , vol.36 , pp. 949-951
    • Iafrate, A.J.1
  • 56
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525-528 (2004).
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1
  • 57
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444-454 (2006).
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1
  • 58
    • 33846006596 scopus 로고    scopus 로고
    • A comprehensive analysis of common copy-number variations in the human genome
    • Wong, K. K. et al. A comprehensive analysis of common copy-number variations in the human genome. Am. J. Hum. Genet. 80, 91-104 (2007).
    • (2007) Am. J. Hum. Genet , vol.80 , pp. 91-104
    • Wong, K.K.1
  • 59
    • 34248525150 scopus 로고    scopus 로고
    • Completing the map of human genetic variation
    • Eichler, E. E. et al. Completing the map of human genetic variation. Nature 447, 161-165 (2007).
    • (2007) Nature , vol.447 , pp. 161-165
    • Eichler, E.E.1
  • 60
    • 33751525325 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization and copy number variation in cancer research
    • Cho, E. K. et al. Array-based comparative genomic hybridization and copy number variation in cancer research. Cytogenet. Genome Res. 115, 262-272 (2006).
    • (2006) Cytogenet. Genome Res , vol.115 , pp. 262-272
    • Cho, E.K.1
  • 61
    • 33746741125 scopus 로고    scopus 로고
    • Copy number variation: New insights in genome diversity
    • Freeman, J. L. et al. Copy number variation: new insights in genome diversity. Genome Res. 16, 949-961 (2006).
    • (2006) Genome Res , vol.16 , pp. 949-961
    • Freeman, J.L.1
  • 62
    • 33751340401 scopus 로고    scopus 로고
    • Genome assembly comparison identifies structural variants in the human genome
    • Khaja, R. et al. Genome assembly comparison identifies structural variants in the human genome. Nature Genet. 38, 1413-1418 (2006).
    • (2006) Nature Genet , vol.38 , pp. 1413-1418
    • Khaja, R.1
  • 63
  • 64
    • 32844460938 scopus 로고    scopus 로고
    • Copy number polymorphism in FCGR3 predisposes to glomerulonephritis in rats and humans
    • Aitman, T. J. et al. Copy number polymorphism in FCGR3 predisposes to glomerulonephritis in rats and humans. Nature 439, 851-855 (2006).
    • (2006) Nature , vol.439 , pp. 851-855
    • Aitman, T.J.1
  • 65
    • 33645130154 scopus 로고    scopus 로고
    • Mendelian disorders deserve more attention
    • Antonarakis, S. E. & Beckmann, J. S. Mendelian disorders deserve more attention. Nature Rev. Genet. 7, 277-282 (2006).
    • (2006) Nature Rev. Genet , vol.7 , pp. 277-282
    • Antonarakis, S.E.1    Beckmann, J.S.2
  • 66
    • 33746363353 scopus 로고    scopus 로고
    • Structural variants: Changing the landscape of chromosomes and design of disease studies
    • Feuk, L., Marshall, C. R., Wintle, R. F. & Scherer, S. W. Structural variants: changing the landscape of chromosomes and design of disease studies. Hum. Mol. Genet. 15, R57-R66 (2006).
    • (2006) Hum. Mol. Genet , vol.15
    • Feuk, L.1    Marshall, C.R.2    Wintle, R.F.3    Scherer, S.W.4
  • 68
    • 33846978695 scopus 로고    scopus 로고
    • Relative impact of nucleotide and copy number variation on gene expression phenotypes
    • Stranger, B. E. et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315, 848-853 (2007).
    • (2007) Science , vol.315 , pp. 848-853
    • Stranger, B.E.1
  • 69
    • 33748752137 scopus 로고    scopus 로고
    • Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration
    • Thakkinstian, A. et al. Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Hum. Mol. Genet. 15, 2784-2790 (2006).
    • (2006) Hum. Mol. Genet , vol.15 , pp. 2784-2790
    • Thakkinstian, A.1
  • 70
    • 33749123246 scopus 로고    scopus 로고
    • A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
    • Hughes, A. E. et al. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nature Genet. 38, 1173-1177 (2006).
    • (2006) Nature Genet , vol.38 , pp. 1173-1177
    • Hughes, A.E.1
  • 71
    • 26944480588 scopus 로고    scopus 로고
    • The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: Evidence from two independent cohorts
    • Fremeaux-Bacchi, V. et al. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J. Med. Genet. 42, 852-856 (2005).
    • (2005) J. Med. Genet , vol.42 , pp. 852-856
    • Fremeaux-Bacchi, V.1
  • 74
    • 0242300619 scopus 로고    scopus 로고
    • α-Synuclein locus triplication causes Parkinson's disease
    • Singleton, A. B. et al. α-Synuclein locus triplication causes Parkinson's disease. Science 302, 841 (2003).
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1
  • 75
    • 33751546259 scopus 로고    scopus 로고
    • Hereditary pancreatitis caused by triplication of the trypsinogen locus
    • Le Marechal, C. et al. Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nature Genet. 38, 1372-1374 (2006).
    • (2006) Nature Genet , vol.38 , pp. 1372-1374
    • Le Marechal, C.1
  • 76
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
    • Rovelet-Lecrux, A. et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genet. 38, 24-26 (2006).
    • (2006) Nature Genet , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1
  • 77
    • 15044364239 scopus 로고    scopus 로고
    • Regulatory polymorphisms underlying complex disease traits
    • Knight, J. C. Regulatory polymorphisms underlying complex disease traits. J. Mol. Med. 83, 97-109 (2005).
    • (2005) J. Mol. Med , vol.83 , pp. 97-109
    • Knight, J.C.1
  • 78
    • 33746351078 scopus 로고    scopus 로고
    • From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation
    • Stranger, B. E. & Dermitzakis, E. T. From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation. Hum. Genomics 2, 383-390 (2006).
    • (2006) Hum. Genomics , vol.2 , pp. 383-390
    • Stranger, B.E.1    Dermitzakis, E.T.2
  • 79
    • 20044377204 scopus 로고    scopus 로고
    • The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
    • Gonzalez, E. et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307, 1434-1440 (2005).
    • (2005) Science , vol.307 , pp. 1434-1440
    • Gonzalez, E.1
  • 80
    • 34249815834 scopus 로고    scopus 로고
    • FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
    • Fanciulli, M. et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nature Genet. 39, 721-723 (2007).
    • (2007) Nature Genet , vol.39 , pp. 721-723
    • Fanciulli, M.1
  • 81
    • 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. et al. 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. 80, 1037-1054 (2007).
    • (2007) Am. J. Hum. Genet , vol.80 , pp. 1037-1054
    • Yang, Y.1
  • 82
    • 33748558056 scopus 로고    scopus 로고
    • A chromosome 8 gene-cluster polymorphism with low human β-defensin 2 gene copy number predisposes to Crohn disease of the colon
    • Fellermann, K. et al. A chromosome 8 gene-cluster polymorphism with low human β-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am. J. Hum. Genet. 79, 439-448 (2006).
    • (2006) Am. J. Hum. Genet , vol.79 , pp. 439-448
    • Fellermann, K.1
  • 83
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari, P. et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genet. 39, 319-328 (2007).
    • (2007) Nature Genet , vol.39 , pp. 319-328
    • Szatmari, P.1
  • 84
    • 33644873796 scopus 로고    scopus 로고
    • Copy number variants and pharmacogenomics
    • Ouahchi, K., Lindeman, N. & Lee, C. Copy number variants and pharmacogenomics. Pharmacogenomics 7, 25-29 (2006).
    • (2006) Pharmacogenomics , vol.7 , pp. 25-29
    • Ouahchi, K.1    Lindeman, N.2    Lee, C.3
  • 85
    • 0037101840 scopus 로고    scopus 로고
    • Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
    • Estivill, X. et al. Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Hum. Mol. Genet. 11, 1987-1995 (2002).
    • (2002) Hum. Mol. Genet , vol.11 , pp. 1987-1995
    • Estivill, X.1
  • 86
  • 87
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat, J. et al. Strong association of de novo copy number mutations with autism. Science 316, 445-449 (2007).
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1
  • 88
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten, J. P. et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57 (2002).
    • (2002) Nucleic Acids Res , vol.30
    • Schouten, J.P.1
  • 89
    • 0034650292 scopus 로고    scopus 로고
    • Measurement of locus copy number by hybridisation with amplifiable probes
    • Armour, J. A., Sismani, C., Patsalis, P. C. & Cross, G. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res. 28, 605-609 (2000).
    • (2000) Nucleic Acids Res , vol.28 , pp. 605-609
    • Armour, J.A.1    Sismani, C.2    Patsalis, P.C.3    Cross, G.4
  • 90
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: New techniques for detection of gene deletions
    • Sellner, L. N. & Taylor, G. R. MLPA and MAPH: new techniques for detection of gene deletions. Hum. Mutat. 23, 413-419 (2004).
    • (2004) Hum. Mutat , vol.23 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 91
    • 33747751247 scopus 로고    scopus 로고
    • Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation
    • Saugier-Veber, P. et al. Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation. Eur. J. Hum. Genet. 14, 1009-1017 (2006).
    • (2006) Eur. J. Hum. Genet , vol.14 , pp. 1009-1017
    • Saugier-Veber, P.1
  • 92
    • 29444457877 scopus 로고    scopus 로고
    • Common deletion polymorphisms in the human genome
    • McCarroll, S. A. et al. Common deletion polymorphisms in the human genome. Nature Genet. 38, 86-92 (2006).
    • (2006) Nature Genet , vol.38 , pp. 86-92
    • McCarroll, S.A.1
  • 93
    • 33750444621 scopus 로고    scopus 로고
    • A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
    • Conrad, D. F. et al. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nature Genet. 38, 1251-1260 (2006).
    • (2006) Nature Genet , vol.38 , pp. 1251-1260
    • Conrad, D.F.1
  • 94
    • 34347349069 scopus 로고    scopus 로고
    • Genomic rearrangements and sporadic disease
    • Lupski, J. R. Genomic rearrangements and sporadic disease. Nature Genet. 39, S43-S47 (2007).
    • (2007) Nature Genet , vol.39
    • Lupski, J.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.