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Volumn 107, Issue 24, 2010, Pages 10848-10853

High-resolution human genome structure by single-molecule analysis

(20)  Teague, Brian a   Waterman, Michael S b   Goldstein, Steven a   Potamousis, Konstantinos a   Zhou, Shiguo a   Reslewic, Susan a   Sarkar, Deepayan c   Valouev, Anton b   Churas, Christopher a   Kidd, Jeffrey M d   Kohn, Scott a   Runnheim, Rodney a   Lamers, Casey a   Forrest, Dan a   Newton, Michael A c,e   Eichler, Evan E d   Kent First, Marijo f   Surti, Urvashi g   Livny, Miron c   Schwartz, David C a  


Author keywords

Copy number variation; Genome assembly; Optical mapping; Single molecule genomics; Structural variation

Indexed keywords

ARTICLE; GENE MAPPING; GENE STRUCTURE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN GENETICS; HUMAN GENOME; HYDATIDIFORM MOLE; LYMPHOBLASTOID CELL LINE; MOLECULE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION MAPPING;

EID: 77954648699     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0914638107     Document Type: Article
Times cited : (143)

References (44)
  • 1
    • 10744231187 scopus 로고    scopus 로고
    • Representational oligonucleotide microarray analysis: A high-resolution method to detect genome copy number variation
    • Lucito R, et al. (2003) Representational oligonucleotide microarray analysis: A high-resolution method to detect genome copy number variation. Genome Res 13:2291-2305.
    • (2003) Genome Res , vol.13 , pp. 2291-2305
    • Lucito, R.1
  • 2
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305:525-528.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1
  • 3
    • 20544462642 scopus 로고    scopus 로고
    • Segmental duplications and copy-number variation in the human genome
    • Sharp AJ, et al. (2005) Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77:78-88.
    • (2005) Am J Hum Genet , vol.77 , pp. 78-88
    • Sharp, A.J.1
  • 4
    • 22844451617 scopus 로고    scopus 로고
    • Fine-scale structural variation of the human genome
    • Tuzun E, et al. (2005) Fine-scale structural variation of the human genome. Nat Genet 37:727-732.
    • (2005) Nat Genet , vol.37 , pp. 727-732
    • Tuzun, E.1
  • 5
    • 29444441336 scopus 로고    scopus 로고
    • A high-resolution survey of deletion polymorphism in the human genome
    • DOI 10.1038/ng1697
    • Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK (2006) A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 38:75-81. (Pubitemid 43011885)
    • (2006) Nature Genetics , vol.38 , Issue.1 , pp. 75-81
    • Conrad, D.F.1    Andrews, T.D.2    Carter, N.P.3    Hurles, M.E.4    Pritchard, J.K.5
  • 6
    • 29444457877 scopus 로고    scopus 로고
    • Common deletion polymorphisms in the human genome
    • McCarroll SA, et al. (2006) Common deletion polymorphisms in the human genome. Nat Genet 38:86-92.
    • (2006) Nat Genet , vol.38 , pp. 86-92
    • McCarroll, S.A.1
  • 8
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel JO, et al. (2007) Paired-end mapping reveals extensive structural variation in the human genome. Science 318:420-426.
    • (2007) Science , vol.318 , pp. 420-426
    • Korbel, J.O.1
  • 9
    • 52949141845 scopus 로고    scopus 로고
    • Integrated detection and population-genetic analysis of SNPs and copy number variation
    • McCarroll SA, et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 40:1166-1174.
    • (2008) Nat Genet , vol.40 , pp. 1166-1174
    • McCarroll, S.A.1
  • 10
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • Kidd JM, et al. (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453:56-64.
    • (2008) Nature , vol.453 , pp. 56-64
    • Kidd, J.M.1
  • 11
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad DF, et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464:704-712.
    • (2010) Nature , vol.464 , pp. 704-712
    • Conrad, D.F.1
  • 12
    • 70350221909 scopus 로고    scopus 로고
    • Copy number variation in human health, disease, and evolution
    • Zhang F, Gu W, Hurles ME, Lupski JR (2009) Copy number variation in human health, disease, and evolution. Annu Rev Genom Hum G 10:451-481.
    • (2009) Annu Rev Genom Hum G , vol.10 , pp. 451-481
    • Zhang, F.1    Gu, W.2    Hurles, M.E.3    Lupski, J.R.4
  • 13
    • 33745373606 scopus 로고    scopus 로고
    • Primate segmental duplications: Crucibles of evolution, diversity and disease
    • Bailey JA, Eichler EE (2006) Primate segmental duplications: Crucibles of evolution, diversity and disease. Nat Rev Genet 7:552-564.
    • (2006) Nat Rev Genet , vol.7 , pp. 552-564
    • Bailey, J.A.1    Eichler, E.E.2
  • 14
    • 16844371343 scopus 로고    scopus 로고
    • Frequency of new copy number variation in humans
    • van Ommen GJB (2005) Frequency of new copy number variation in humans. Nat Genet 37:333-334.
    • (2005) Nat Genet , vol.37 , pp. 333-334
    • Van Ommen, G.J.B.1
  • 15
    • 33744455443 scopus 로고    scopus 로고
    • Hotspots for copy number variation in chimpanzees and humans
    • Perry GH, et al. (2006) Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci USA 103:8006-8011.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 8006-8011
    • Perry, G.H.1
  • 16
    • 43349092668 scopus 로고    scopus 로고
    • Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes
    • Shen F, et al. (2008) Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes. BMC Genet 9:27.
    • (2008) BMC Genet , vol.9 , pp. 27
    • Shen, F.1
  • 17
    • 35648976118 scopus 로고    scopus 로고
    • The diploid genome sequence of an individual human
    • Levy S, et al. (2007) The diploid genome sequence of an individual human. PLoS Biol 5:e254.
    • (2007) PLoS Biol , vol.5
    • Levy, S.1
  • 18
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing
    • Wheeler DA, et al. (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452:872-876.
    • (2008) Nature , vol.452 , pp. 872-876
    • Wheeler, D.A.1
  • 19
    • 55549097849 scopus 로고    scopus 로고
    • The diploid genome sequence of an Asian individual
    • Wang J, et al. (2008) The diploid genome sequence of an Asian individual. Nature 456:60-65.
    • (2008) Nature , vol.456 , pp. 60-65
    • Wang, J.1
  • 20
    • 70249089090 scopus 로고    scopus 로고
    • Single-molecule sequencing of an individual human genome
    • Pushkarev D, Neff NF, Quake SR (2009) Single-molecule sequencing of an individual human genome. Nat Biotechnol 27:847-852.
    • (2009) Nat Biotechnol , vol.27 , pp. 847-852
    • Pushkarev, D.1    Neff, N.F.2    Quake, S.R.3
  • 21
    • 0027485082 scopus 로고
    • Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping
    • Schwartz DC, et al. (1993) Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping. Science 262:110-114.
    • (1993) Science , vol.262 , pp. 110-114
    • Schwartz, D.C.1
  • 22
    • 13144251116 scopus 로고    scopus 로고
    • Automated high resolution optical mapping using arrayed, fluid-fixed DNA molecules
    • Jing J, et al. (1998) Automated high resolution optical mapping using arrayed, fluid-fixed DNA molecules. Proc Natl Acad Sci USA 95:8046-8051.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8046-8051
    • Jing, J.1
  • 23
    • 0032727009 scopus 로고    scopus 로고
    • A shotgun optical map of the entire Plasmodium falciparum genome
    • Lai Z, et al. (1999) A shotgun optical map of the entire Plasmodium falciparum genome. Nat Genet 23:309-313.
    • (1999) Nat Genet , vol.23 , pp. 309-313
    • Lai, Z.1
  • 24
    • 0033520409 scopus 로고    scopus 로고
    • Whole-genome shotgun optical mapping of Deinococcus radiodurans
    • Lin J, et al. (1999) Whole-genome shotgun optical mapping of Deinococcus radiodurans. Science 285:1558-1562.
    • (1999) Science , vol.285 , pp. 1558-1562
    • Lin, J.1
  • 25
    • 0141519284 scopus 로고    scopus 로고
    • Whole-genome shotgun optical mapping of Rhodobacter sphaeroides strain 2.4.1 and its use for whole-genome shotgun sequence assembly
    • Zhou S, et al. (2003) Whole-genome shotgun optical mapping of Rhodobacter sphaeroides strain 2.4.1 and its use for whole-genome shotgun sequence assembly. Genome Res 13:2142-2151.
    • (2003) Genome Res , vol.13 , pp. 2142-2151
    • Zhou, S.1
  • 26
    • 4544318512 scopus 로고    scopus 로고
    • A microfluidic system for large DNA molecule arrays
    • Dimalanta ET, et al. (2004) A microfluidic system for large DNA molecule arrays. Anal Chem 76:5293-5301.
    • (2004) Anal Chem , vol.76 , pp. 5293-5301
    • Dimalanta, E.T.1
  • 28
    • 33645972285 scopus 로고    scopus 로고
    • Alignment of optical maps
    • Valouev A, et al. (2006) Alignment of optical maps. J Comput Biol 13:442-462.
    • (2006) J Comput Biol , vol.13 , pp. 442-462
    • Valouev, A.1
  • 30
    • 33646184682 scopus 로고    scopus 로고
    • DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
    • Zody MC, et al. (2006) DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 440:1045-1049.
    • (2006) Nature , vol.440 , pp. 1045-1049
    • Zody, M.C.1
  • 32
    • 35649003378 scopus 로고    scopus 로고
    • Validation of rice genome sequence by optical mapping
    • Zhou S, et al. (2007) Validation of rice genome sequence by optical mapping. BMC Genomics 8:278.
    • (2007) BMC Genomics , vol.8 , pp. 278
    • Zhou, S.1
  • 33
    • 49749083845 scopus 로고    scopus 로고
    • Optical mapping discerns genome wide DNA methylation profiles
    • Ananiev GE, et al. (2008) Optical mapping discerns genome wide DNA methylation profiles. BMC Mol Biol 9:68.
    • (2008) BMC Mol Biol , vol.9 , pp. 68
    • Ananiev, G.E.1
  • 34
    • 66249148986 scopus 로고    scopus 로고
    • Lineage-specific biology revealed by a finished genome assembly of the mouse
    • Church DM, et al. (2009) Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol 7:e1000112.
    • (2009) PLoS Biol , vol.7
    • Church, D.M.1
  • 35
    • 73649103712 scopus 로고    scopus 로고
    • A single molecule scaffold for the maize genome
    • Zhou S, et al. (2009) A single molecule scaffold for the maize genome. PLoS Genet 5:e1000711.
    • (2009) PLoS Genet , vol.5
    • Zhou, S.1
  • 36
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    • Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314-331. (Pubitemid 11105557)
    • (1980) American Journal of Human Genetics , vol.32 , Issue.3 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 40
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • DOI 10.1038/nature03001
    • International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature 431:931-945. (Pubitemid 39434409)
    • (2004) Nature , vol.431 , Issue.7011 , pp. 931-945
    • Collins, F.S.1    Lander, E.S.2    Rogers, J.3    Waterson, R.H.4
  • 41
    • 75549089967 scopus 로고    scopus 로고
    • The UCSC genome browser database: Update 2010
    • Rhead B, et al. (2010) The UCSC genome browser database: Update 2010. Nucleic Acids Res 38:D613-D619.
    • (2010) Nucleic Acids Res , vol.38
    • Rhead, B.1
  • 44
    • 70350765089 scopus 로고    scopus 로고
    • A single-molecule barcoding system using nanoslits for DNA analysis: Nanocoding
    • Jo K, Schramm TM, Schwartz DC (2009) A single-molecule barcoding system using nanoslits for DNA analysis : Nanocoding. Methods Mol Biol 544:29-42.
    • (2009) Methods Mol Biol , vol.544 , pp. 29-42
    • Jo, K.1    Schramm, T.M.2    Schwartz, D.C.3


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