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Volumn 5, Issue 5, 2004, Pages 345-354

An assessment of the sequence gaps: Unfinished business in a finished human genome

Author keywords

[No Author keywords available]

Indexed keywords

ACROCENTRIC CHROMOSOME; CENTROMERE; EUCHROMATIN; GENE DUPLICATION; HETEROCHROMATIN; HUMAN; HUMAN GENOME; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 1942499458     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg1322     Document Type: Review
Times cited : (154)

References (73)
  • 1
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860-920 (2001). The first description and analysis of a publicly released assembly of the human genome.
    • (2001) Nature , vol.409 , pp. 860-920
  • 3
    • 0032561249 scopus 로고    scopus 로고
    • New goals for the U.S. Human Genome Project: 1998-2003
    • Collins, F. S. et al. New goals for the U.S. Human Genome Project: 1998-2003. Science 282, 682-689 (1998).
    • (1998) Science , vol.282 , pp. 682-689
    • Collins, F.S.1
  • 4
    • 0037047628 scopus 로고    scopus 로고
    • Recent segmental duplications in the human genome
    • Bailey, J. A. et al. Recent segmental duplications in the human genome. Science 297, 1003-1007 (2002). A global analysis of the organization and properties of recent segmental duplications in the human genome using whole-genome shotgun sequence data.
    • (2002) Science , vol.297 , pp. 1003-1007
    • Bailey, J.A.1
  • 5
    • 0030972827 scopus 로고    scopus 로고
    • Against a whole-genome shotgun
    • Green, P. Against a whole-genome shotgun. Genome Res. 7, 410-417 (1997).
    • (1997) Genome Res. , vol.7 , pp. 410-417
    • Green, P.1
  • 6
    • 0031692007 scopus 로고    scopus 로고
    • Masquerading repeats: Paralogous pitfalls of the human genome
    • Eichler, E. E. Masquerading repeats: paralogous pitfalls of the human genome. Genome Res. 8, 758-782 (1998).
    • (1998) Genome Res. , vol.8 , pp. 758-782
    • Eichler, E.E.1
  • 7
    • 0034831138 scopus 로고    scopus 로고
    • Segmental duplications: Organization and impact within the current Human Genome Project assembly
    • Bailey, J. A., Yavor, A. M., Massa, H. F., Trask, B. J. & Eichler, E. E. Segmental duplications: organization and impact within the current Human Genome Project assembly. Genome Res. 11, 1005-1017 (2001).
    • (2001) Genome Res. , vol.11 , pp. 1005-1017
    • Bailey, J.A.1    Yavor, A.M.2    Massa, H.F.3    Trask, B.J.4    Eichler, E.E.5
  • 8
    • 0037837485 scopus 로고    scopus 로고
    • Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
    • Cheung, J. et al. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol. 4, R25 (2003).
    • (2003) Genome Biol. , vol.4
    • Cheung, J.1
  • 9
    • 0035865257 scopus 로고    scopus 로고
    • Integration of cytogenetic landmarks into the draft sequence of the human genome
    • The BAC Resource Consortium
    • Cheung, V. G. et al. Integration of cytogenetic landmarks into the draft sequence of the human genome. The BAC Resource Consortium. Nature 409, 953-958 (2001).
    • (2001) Nature , vol.409 , pp. 953-958
    • Cheung, V.G.1
  • 10
    • 0036138187 scopus 로고    scopus 로고
    • Human-specific duplication and mosaic transcripts: The recent paralogous structure of chromosome 22
    • Bailey, A. et al. Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22. Am. J. Hum. Genet. 70, 83-100 (2002).
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 83-100
    • Bailey, A.1
  • 11
    • 0031419656 scopus 로고    scopus 로고
    • A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2
    • Kehrer-Sawatzki, H., Schwickardt, T., Assum, G., Rocchi, G. & Krone, W. A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2. Hum. Genet. 100, 595-600 (1997).
    • (1997) Hum. Genet. , vol.100 , pp. 595-600
    • Kehrer-Sawatzki, H.1    Schwickardt, T.2    Assum, G.3    Rocchi, G.4    Krone, W.5
  • 12
    • 0036071239 scopus 로고    scopus 로고
    • Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17
    • Kehrer-Sawatzki, H. et al. Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17. Am. J. Hum. Genet. 71, 375-388 (2002).
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 375-388
    • Kehrer-Sawatzki, H.1
  • 13
    • 0032908833 scopus 로고    scopus 로고
    • Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level
    • Barber, J. C., Reed, C. J., Dahoun, S. P. & Joyce, C. A. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum. Genet. 104, 211-218 (1999).
    • (1999) Hum. Genet. , vol.104 , pp. 211-218
    • Barber, J.C.1    Reed, C.J.2    Dahoun, S.P.3    Joyce, C.A.4
  • 14
    • 0033816360 scopus 로고    scopus 로고
    • Characterization of the glutathione S-transferase GSTT1 deletion: Discrimination of all genotypes by polymerase chain reaction indicates a trimodular genotype-phenotype correlation
    • Sprenger, R. et al. Characterization of the glutathione S-transferase GSTT1 deletion: discrimination of all genotypes by polymerase chain reaction indicates a trimodular genotype-phenotype correlation. Pharmacogenetics 10, 557-565 (2000).
    • (2000) Pharmacogenetics , vol.10 , pp. 557-565
    • Sprenger, R.1
  • 15
    • 10744222471 scopus 로고    scopus 로고
    • Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications
    • Horvath, J. E. et al. Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. Mol. Biol. Evol. 20, 1468-1479 (2003).
    • (2003) Mol. Biol. Evol. , vol.20 , pp. 1468-1479
    • Horvath, J.E.1
  • 16
    • 0033916868 scopus 로고    scopus 로고
    • The mosaic structure of a 2p11 pericentromeric segment: A strategy for characterizing complex regions of the human genome
    • Horvath, J., Schwartz, S. & Eichler, E. The mosaic structure of a 2p11 pericentromeric segment: a strategy for characterizing complex regions of the human genome. Genome Res. 10, 839-852 (2000).
    • (2000) Genome Res. , vol.10 , pp. 839-852
    • Horvath, J.1    Schwartz, S.2    Eichler, E.3
  • 17
    • 0035184973 scopus 로고    scopus 로고
    • The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
    • Kuroda-Kawaguchi, T. et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nature Genet. 29, 279-286 (2001).
    • (2001) Nature Genet. , vol.29 , pp. 279-286
    • Kuroda-Kawaguchi, T.1
  • 18
    • 0038495746 scopus 로고    scopus 로고
    • The DNA sequence of human chromosome 7
    • Hillier, L. W. et al. The DNA sequence of human chromosome 7. Nature 424, 157-164 (2003).
    • (2003) Nature , vol.424 , pp. 157-164
    • Hillier, L.W.1
  • 19
    • 0035475786 scopus 로고    scopus 로고
    • Lessons from the human genome: Transitions between euchromatin and heterochromatin
    • Horvath, J. E., Bailey, J. A., Locke, D. P. & Eichler, E. E. Lessons from the human genome: transitions between euchromatin and heterochromatin. Hum. Mol. Genet. 10, 2215-2223 (2001).
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2215-2223
    • Horvath, J.E.1    Bailey, J.A.2    Locke, D.P.3    Eichler, E.E.4
  • 20
    • 0037421899 scopus 로고    scopus 로고
    • The DNA sequence and analysis of human chromosome 14
    • Heilig, R. et al. The DNA sequence and analysis of human chromosome 14. Nature 421, 601-607 (2003).
    • (2003) Nature , vol.421 , pp. 601-607
    • Heilig, R.1
  • 21
    • 0035071955 scopus 로고    scopus 로고
    • Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
    • Giglio, S. et al. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am. J. Hum. Genet. 68, 874-883 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 874-883
    • Giglio, S.1
  • 22
    • 0035179436 scopus 로고    scopus 로고
    • A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
    • Osborne, L. R. et al. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nature Genet. 29, 321-325 (2001). Provides evidence that large-scale structural polymorphisms might increase the risk of recurrent chromosomal structural rearrangements among offspring.
    • (2001) Nature Genet. , vol.29 , pp. 321-325
    • Osborne, L.R.1
  • 23
    • 0037447443 scopus 로고    scopus 로고
    • Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
    • Gimelli, G. et al. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum. Mol. Genet. 12, 849-858 (2003).
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 849-858
    • Gimelli, G.1
  • 24
    • 0036071427 scopus 로고    scopus 로고
    • Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4; 8)(p16;p23) translocation
    • Giglio, S. et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4; 8)(p16;p23) translocation. Am. J. Hum. Genet. 71, 276-285 (2002).
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 276-285
    • Giglio, S.1
  • 25
    • 0031876598 scopus 로고    scopus 로고
    • A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications
    • Ritchie, R. J., Mattei, M. G. & Lalande, M. A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum. Mol. Genet. 7, 1253-1260 (1998).
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1253-1260
    • Ritchie, R.J.1    Mattei, M.G.2    Lalande, M.3
  • 26
    • 0031767480 scopus 로고    scopus 로고
    • Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q
    • Barber, J. C. et al. Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q. Hum. Genet. 103, 600-607 (1998).
    • (1998) Hum. Genet. , vol.103 , pp. 600-607
    • Barber, J.C.1
  • 27
    • 0036196707 scopus 로고    scopus 로고
    • Organisation of the pericentromeric region of chromosome 15: At least four partial gene copies are amplified in patients with a proximal duplication of 15q
    • Fantes, J. A. et al. Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. J. Med. Genet. 39, 170-177 (2002).
    • (2002) J. Med. Genet. , vol.39 , pp. 170-177
    • Fantes, J.A.1
  • 28
    • 0037967242 scopus 로고    scopus 로고
    • The male-specific region of the human Y chromosome: A mosaic of discrete sequence classes
    • Skaletsky, H. et al. The male-specific region of the human Y chromosome: a mosaic of discrete sequence classes. Nature 423, 825-837 (2003).
    • (2003) Nature , vol.423 , pp. 825-837
    • Skaletsky, H.1
  • 29
    • 0034879060 scopus 로고    scopus 로고
    • α-satellite DNA of primates: Old and new families
    • Alexandrov, I., Kazakov, A., Tumeneva, I., Shepelev, V. & Yurov, Y. α-Satellite DNA of primates: old and new families. Chromosoma 110, 253-266 (2001). A thorough overview of the various classes of α-satellite DNA and their evolutionary properties.
    • (2001) Chromosoma , vol.110 , pp. 253-266
    • Alexandrov, I.1    Kazakov, A.2    Tumeneva, I.3    Shepelev, V.4    Yurov, Y.5
  • 31
    • 0035812788 scopus 로고    scopus 로고
    • Genomic and genetic definition of a functional human centromere
    • Schueler, M. G., Higgins, A. W., Rudd, M. K., Gustashaw, K. & Willard, H. F. Genomic and genetic definition of a functional human centromere. Science 294, 109-115 (2001). Functional and structural characterization of a euchromatin-heterochromatin transition region on the X chromosome.
    • (2001) Science , vol.294 , pp. 109-115
    • Schueler, M.G.1    Higgins, A.W.2    Rudd, M.K.3    Gustashaw, K.4    Willard, H.F.5
  • 32
    • 0034018260 scopus 로고    scopus 로고
    • Molecular structure and evolution of an α/non-α satellite junction at 16p11
    • Horvath, J. at al. Molecular structure and evolution of an α/non-α satellite junction at 16p11. Hum. Mol. Genet. 9, 113-123 (2000).
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 113-123
    • Horvath, J.1
  • 33
    • 0023840603 scopus 로고
    • Human ribosomal RNA genes: Orientation of the tandem array and conservation of the 5′ end
    • Worton, R. et al. Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5′ end. Science 239, 64-68 (1988).
    • (1988) Science , vol.239 , pp. 64-68
    • Worton, R.1
  • 34
    • 0026583457 scopus 로고
    • β-satellite DNA characterization and localization of two subfamilies from the distal and proximal short arms of human acrocentric, chromosomes
    • Greig, G. & Willard, H. β-Satellite DNA: characterization and localization of two subfamilies from the distal and proximal short arms of human acrocentric, chromosomes. Genomics 12, 573-580 (1992).
    • (1992) Genomics , vol.12 , pp. 573-580
    • Greig, G.1    Willard, H.2
  • 35
    • 0024709994 scopus 로고
    • Evolution of α-satellite DNA on human acrocentric chromosomes
    • Choo, K. H., Vissel, B. & Earle, E. Evolution of α-satellite DNA on human acrocentric chromosomes. Genomics 5, 332-344 (1989).
    • (1989) Genomics , vol.5 , pp. 332-344
    • Choo, K.H.1    Vissel, B.2    Earle, E.3
  • 36
    • 0029585732 scopus 로고
    • A high-fidelity physical map of human chromosome 21 q in yeast artificial chromosomes
    • Korenberg, J. R. et al. A high-fidelity physical map of human chromosome 21 q in yeast artificial chromosomes. Genome Res. 5, 427-443 (1995).
    • (1995) Genome Res. , vol.5 , pp. 427-443
    • Korenberg, J.R.1
  • 37
    • 0032729183 scopus 로고    scopus 로고
    • A high-resolution physical map of human chromosome 21 p using yeast artificial chromosomes
    • Wang, S. Y. et al. A high-resolution physical map of human chromosome 21 p using yeast artificial chromosomes. Genome Res. 9, 1059-1073 (1999).
    • (1999) Genome Res. , vol.9 , pp. 1059-1073
    • Wang, S.Y.1
  • 38
    • 0029067907 scopus 로고
    • Complete seqence of the 43-kb human ribosomal DNA repeat: Analysis of the intergenic spacer
    • Gonzalez, I. L. & Sylvester, J. E. Complete sequence of the 43-kb human ribosomal DNA repeat: analysis of the intergenic spacer. Genomics 27, 320-328 (1995).
    • (1995) Genomics , vol.27 , pp. 320-328
    • Gonzalez, I.L.1    Sylvester, J.E.2
  • 39
    • 0031053015 scopus 로고    scopus 로고
    • Incognito rRNA and rDNA in databases and libraries
    • Gonzalez, I. L. & Sylvester, J. E. Incognito rRNA and rDNA in databases and libraries. Genome Res. 7, 65-70 (1997).
    • (1997) Genome Res. , vol.7 , pp. 65-70
    • Gonzalez, I.L.1    Sylvester, J.E.2
  • 40
    • 0035338424 scopus 로고    scopus 로고
    • Human rDNA: Evolutionary patterns within the genes and tandem arrays derived from multiple chromosomes
    • Gonzalez, I. L. & Sylvester J. E. Human rDNA: evolutionary patterns within the genes and tandem arrays derived from multiple chromosomes. Genomics 73, 255-263 (2001).
    • (2001) Genomics , vol.73 , pp. 255-263
    • Gonzalez, I.L.1    Sylvester, J.E.2
  • 41
    • 0029898688 scopus 로고    scopus 로고
    • A palindromic structure in the pericentromeric region of various human chromosomes
    • Wohr, G., Fink, T. & Assum, G. A palindromic structure in the pericentromeric region of various human chromosomes. Genome Res. 6, 267-279 (1996).
    • (1996) Genome Res. , vol.6 , pp. 267-279
    • Wohr, G.1    Fink, T.2    Assum, G.3
  • 42
    • 0032991965 scopus 로고    scopus 로고
    • Characterization of an alphoid subfamily located near p-arm sequences on human chromosome 22
    • Eisenbarth, I., Konig-Greger, D., Wohr, G., Kehrer-Sawatzki, H. & Assum, G. Characterization of an alphoid subfamily located near p-arm sequences on human chromosome 22. Chromosome Res. 7, 65-69 (1999).
    • (1999) Chromosome Res. , vol.7 , pp. 65-69
    • Eisenbarth, I.1    Konig-Greger, D.2    Wohr, G.3    Kehrer-Sawatzki, H.4    Assum, G.5
  • 43
    • 0034682403 scopus 로고    scopus 로고
    • The DNA sequence of human chromosome 21
    • Hattori, M. et al. The DNA sequence of human chromosome 21. Nature 405, 311-319 (2000).
    • (2000) Nature , vol.405 , pp. 311-319
    • Hattori, M.1
  • 44
    • 0036639784 scopus 로고    scopus 로고
    • The chAB4 and NF1-related long-range multisequence DNA families are contiguous in the centromeric heterochromatin of several human chromosomes
    • Cserpan, I. et al. The chAB4 and NF1-related long-range multisequence DNA families are contiguous in the centromeric heterochromatin of several human chromosomes. Nucleic Acids Res. 30, 2899-2905 (2002).
    • (2002) Nucleic Acids Res. , vol.30 , pp. 2899-2905
    • Cserpan, I.1
  • 45
    • 0033822632 scopus 로고    scopus 로고
    • Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21
    • Guipponi, M. et al. Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21. Hum. Genet. 107, 127-131 (2000).
    • (2000) Hum. Genet. , vol.107 , pp. 127-131
    • Guipponi, M.1
  • 46
    • 0034326270 scopus 로고    scopus 로고
    • Alu-mediated PCR artefacts and the constitutional t(11;22) breakpoint
    • Kurahashi, H., Shaikh, T. H. & Emanuel, B. S. Alu-mediated PCR artefacts and the constitutional t(11;22) breakpoint. Hum. Mol. Genet. 9, 2727-2732 (2000).
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2727-2732
    • Kurahashi, H.1    Shaikh, T.H.2    Emanuel, B.S.3
  • 47
    • 12244276360 scopus 로고    scopus 로고
    • A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin
    • Robledo, R. et al. A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin. Genomics 80, 585-592 (2002).
    • (2002) Genomics , vol.80 , pp. 585-592
    • Robledo, R.1
  • 48
    • 0242668806 scopus 로고    scopus 로고
    • Segments missing from the draft human genome sequence can be isolated by transformation-associated recombination cloning in yeast
    • Kouprina, N. et al. Segments missing from the draft human genome sequence can be isolated by transformation-associated recombination cloning in yeast. EMBO Rep. 4, 257-262 (2003).
    • (2003) EMBO Rep. , vol.4 , pp. 257-262
    • Kouprina, N.1
  • 49
    • 0035038356 scopus 로고    scopus 로고
    • Directed gap closure in large-scale sequencing projects
    • Frohme, M. et al. Directed gap closure in large-scale sequencing projects. Genome Res. 11, 901-903 (2001).
    • (2001) Genome Res. , vol.11 , pp. 901-903
    • Frohme, M.1
  • 50
    • 0034307480 scopus 로고    scopus 로고
    • A plea to search for deletion polymorphism through genome scans in populations
    • Siniscalco, M. et al. A plea to search for deletion polymorphism through genome scans in populations. Trends Genet. 16, 435-437 (2000).
    • (2000) Trends Genet. , vol.16 , pp. 435-437
    • Siniscalco, M.1
  • 51
    • 0037371163 scopus 로고    scopus 로고
    • The constitutional t(17;22): Another translocation mediated by palindromic AT-rich repeats
    • Kurahashi, H., Shaikh, T., Takata, M., Toda, T. & Emenual, B. S. The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. Am. J. Hum. Genet. 72, 733-738 (2003).
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 733-738
    • Kurahashi, H.1    Shaikh, T.2    Takata, M.3    Toda, T.4    Emenual, B.S.5
  • 52
    • 0035509701 scopus 로고    scopus 로고
    • Long AT-rich palindromes and the constitutional t(11;22) breakpoint
    • Kurahashi, H. & Emanuel, B. S. Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Hum. Mol. Genet. 10, 2605-2617 (2001). Sequence characterization of a gap in the human genome and its association with recurrent chromosomal instability.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2605-2617
    • Kurahashi, H.1    Emanuel, B.S.2
  • 53
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk, A. J. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914 (1991).
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1
  • 54
    • 0038349286 scopus 로고    scopus 로고
    • Development and evaluation of an automated annotation pipeline and cDNA annotation system
    • Kasukawa, T. et al. Development and evaluation of an automated annotation pipeline and cDNA annotation system. Genome Res. 13, 1542-1551 (2003).
    • (2003) Genome Res. , vol.13 , pp. 1542-1551
    • Kasukawa, T.1
  • 55
    • 0038011332 scopus 로고    scopus 로고
    • CDS annotation in full-length cDNA sequence
    • Furuno, M. et al. CDS annotation in full-length cDNA sequence. Genome Res. 13, 1478-1487 (2003).
    • (2003) Genome Res. , vol.13 , pp. 1478-1487
    • Furuno, M.1
  • 56
    • 1542563409 scopus 로고    scopus 로고
    • Initial sequencing and comparative analysis of the mouse genome
    • Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520-562 (2002).
    • (2002) Nature , vol.420 , pp. 520-562
  • 57
    • 0037272006 scopus 로고    scopus 로고
    • Reevaluating human gene annotation: A second-generation analysis of chromosome 22
    • Collins, J. E. et al. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. Genome Res. 13, 27-36 (2003). A careful re-examination of gene annotation on chromosome 22 that identifies common sources of error on the basis of genome structure and limitations of EST/gene databases.
    • (2003) Genome Res. , vol.13 , pp. 27-36
    • Collins, J.E.1
  • 58
    • 79960655760 scopus 로고    scopus 로고
    • The DNA sequence of human chromosome 22
    • Dunham, I. et al. The DNA sequence of human chromosome 22. Nature 402, 489-495 (1999).
    • (1999) Nature , vol.402 , pp. 489-495
    • Dunham, I.1
  • 59
    • 0036100124 scopus 로고    scopus 로고
    • Evidence suggesting that a fifth of annotated Caenorhabditis elegans genes may be pseudogenes
    • Mounsey, A., Bauer, P. & Hope, I. A. Evidence suggesting that a fifth of annotated Caenorhabditis elegans genes may be pseudogenes. Genome Res. 12, 770-775 (2002).
    • (2002) Genome Res. , vol.12 , pp. 770-775
    • Mounsey, A.1    Bauer, P.2    Hope, I.A.3
  • 60
    • 0030950736 scopus 로고    scopus 로고
    • The organization of the γ-glutamyl transferase genes and other low copy repeats in human chromosome 22q11
    • Collins, J. E., Mungall, A. J., Badcock, K. L., Fay, J. M. & Dunham, I. The organization of the γ-glutamyl transferase genes and other low copy repeats in human chromosome 22q11. Genome Res. 7, 522-531 (1997).
    • (1997) Genome Res. , vol.7 , pp. 522-531
    • Collins, J.E.1    Mungall, A.J.2    Badcock, K.L.3    Fay, J.M.4    Dunham, I.5
  • 61
    • 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
  • 62
    • 0035837267 scopus 로고    scopus 로고
    • Linkage disequilibrium in the human genome
    • Reich, D. E. et al. Linkage disequilibrium in the human genome. Nature 411, 190-204 (2001).
    • (2001) Nature , vol.411 , pp. 190-204
    • Reich, D.E.1
  • 63
    • 0036725017 scopus 로고    scopus 로고
    • Human genome sequence variation and the influence of gene history, mutation and recombination
    • Reich, D. E. et al. Human genome sequence variation and the influence of gene history, mutation and recombination. Nature Genet. 32, 135-142 (2002).
    • (2002) Nature Genet. , vol.32 , pp. 135-142
    • Reich, D.E.1
  • 64
    • 0035865407 scopus 로고    scopus 로고
    • Integration of telomere sequences with the draft human genome sequence
    • Riethman, H. C. et al. Integration of telomere sequences with the draft human genome sequence. Nature 409, 948-951 (2001).
    • (2001) Nature , vol.409 , pp. 948-951
    • Riethman, H.C.1
  • 65
    • 0347766009 scopus 로고    scopus 로고
    • Mapping and initial analysis of human subtelomeric sequence assemblies
    • in the press
    • Riethman, H. C. et al. Mapping and initial analysis of human subtelomeric sequence assemblies. Genome. Res. (in the press). Describes the sequence organization of human subtelomeric regions by implementing a half-YAC strategy to resolve these complex regions of the genome.
    • Genome. Res.
    • Riethman, H.C.1
  • 66
    • 0030040287 scopus 로고    scopus 로고
    • Specific cloning of human DNA as yeast artificial chromosomes by transformation-associated recombination
    • Larionov, V. et al. Specific cloning of human DNA as yeast artificial chromosomes by transformation-associated recombination. Proc. Natl Acad. Sci. USA 93, 491-496 (1996).
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 491-496
    • Larionov, V.1
  • 67
    • 0037329775 scopus 로고    scopus 로고
    • Cloning of human centromeres by transformation-associated recombination in yeast and generation of functional human artificial chromosomes
    • Kouprina, N. et al. Cloning of human centromeres by transformation-associated recombination in yeast and generation of functional human artificial chromosomes. Nucleic Acids Res. 31, 922-934 (2003).
    • (2003) Nucleic Acids Res. , vol.31 , pp. 922-934
    • Kouprina, N.1
  • 68
    • 0037212880 scopus 로고    scopus 로고
    • TRAP Tandem Repeat Assembly Program produces improved shotgun assemblies of repetitive sequences
    • Tammi, M. T., Arner, E. & Andersson, B. TRAP: Tandem Repeat Assembly Program produces improved shotgun assemblies of repetitive sequences. Comput. Methods Programs Biomed. 70, 47-59 (2003).
    • (2003) Comput. Methods Programs Biomed. , vol.70 , pp. 47-59
    • Tammi, M.T.1    Arner, E.2    Andersson, B.3
  • 70
  • 71
    • 0035807336 scopus 로고    scopus 로고
    • Positive selection of a gene family during the emergence of humans and African apes
    • Johnson, M. E. et al. Positive selection of a gene family during the emergence of humans and African apes. Nature 413, 514-519 (2001).
    • (2001) Nature , vol.413 , pp. 514-519
    • Johnson, M.E.1
  • 72
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski, J. R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14, 417-422 (1998).
    • (1998) Trends Genet. , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 73
    • 1942525963 scopus 로고    scopus 로고
    • RepeatMasker documentation. Index of RM [online], 〈 http://repeatmasker.genome.washington.edu/RM/〉 (1997).
    • (1997) Index of RM [Online]


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.