메뉴 건너뛰기




Volumn 26, Issue 11, 2016, Pages 1575-1587

Characterizing polymorphic inversions in human genomes by single-cell sequencing

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 84995581674     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.201160.115     Document Type: Article
Times cited : (57)

References (68)
  • 1
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • The 1000 Genomes Project Consortium. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65.
    • (2012) Nature , vol.491 , pp. 56-65
  • 3
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • Alkan C, Coe BP, Eichler EE. 2011. Genome structural variation discovery and genotyping. Nat Rev Genet 12: 363-376.
    • (2011) Nat Rev Genet , vol.12 , pp. 363-376
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 4
    • 84870196858 scopus 로고    scopus 로고
    • On the structural plasticity of the human genome: Chromosomal inversions revisited
    • Alves JM, Lopes AM, Chikhi L, Amorim A. 2012. On the structural plasticity of the human genome: chromosomal inversions revisited. Curr Genomics 13: 623-632.
    • (2012) Curr Genomics , vol.13 , pp. 623-632
    • Alves, J.M.1    Lopes, A.M.2    Chikhi, L.3    Amorim, A.4
  • 5
    • 84902959588 scopus 로고    scopus 로고
    • The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations
    • Alves JM, Chikhi L, Amorim A, Lopes AM. 2014. The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations. Genome Biol Evol 6: 921-930.
    • (2014) Genome Biol Evol , vol.6 , pp. 921-930
    • Alves, J.M.1    Chikhi, L.2    Amorim, A.3    Lopes, A.M.4
  • 10
    • 33846877205 scopus 로고    scopus 로고
    • Evidence for large inversion polymorphisms in the human genome from HapMap data
    • Bansal V, Bashir A, Bafna V. 2007. Evidence for large inversion polymorphisms in the human genome from HapMap data. Genome Res 17: 219-230.
    • (2007) Genome Res , vol.17 , pp. 219-230
    • Bansal, V.1    Bashir, A.2    Bafna, V.3
  • 11
    • 84876592083 scopus 로고    scopus 로고
    • A genomic view of mosaicism and human disease
    • Biesecker LG, Spinner NB. 2013. A genomic view of mosaicism and human disease. Nat Rev Genet 14: 307-320.
    • (2013) Nat Rev Genet , vol.14 , pp. 307-320
    • Biesecker, L.G.1    Spinner, N.B.2
  • 12
    • 0028926890 scopus 로고
    • Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
    • Bondeson ML, Dahl N, Malmgren H, Kleijer WJ, Tonnesen T, Carlberg BM, Pettersson U. 1995. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4: 615-621.
    • (1995) Hum Mol Genet , vol.4 , pp. 615-621
    • Bondeson, M.L.1    Dahl, N.2    Malmgren, H.3    Kleijer, W.J.4    Tonnesen, T.5    Carlberg, B.M.6    Pettersson, U.7
  • 13
    • 84929481938 scopus 로고    scopus 로고
    • Following the footprints of polymorphic inversions on SNP data: From detection to association tests
    • Caceres A, Gonzalez JR. 2015. Following the footprints of polymorphic inversions on SNP data: from detection to association tests. Nucleic Acids Res 43: e53.
    • (2015) Nucleic Acids Res , vol.43 , pp. e53
    • Caceres, A.1    Gonzalez, J.R.2
  • 20
    • 0035487212 scopus 로고    scopus 로고
    • Segmental duplications: An 'expanding' role in genomic instability and disease
    • Emanuel BS, Shaikh TH. 2001. Segmental duplications: an 'expanding' role in genomic instability and disease. Nat Rev Genet 2: 791-800.
    • (2001) Nat Rev Genet , vol.2 , pp. 791-800
    • Emanuel, B.S.1    Shaikh, T.H.2
  • 22
    • 77954402321 scopus 로고    scopus 로고
    • Inversion variants in the human genome: Role in disease and genome architecture
    • Feuk L. 2010. Inversion variants in the human genome: role in disease and genome architecture. Genome Med 2: 11.
    • (2010) Genome Med , vol.2 , pp. 11
    • Feuk, L.1
  • 23
    • 34147145526 scopus 로고    scopus 로고
    • Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
    • Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW. 2005. Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet 1: e56.
    • (2005) PLoS Genet , vol.1 , pp. e56
    • Feuk, L.1    MacDonald, J.R.2    Tang, T.3    Carson, A.R.4    Li, M.5    Rao, G.6    Khaja, R.7    Scherer, S.W.8
  • 24
    • 62549134411 scopus 로고    scopus 로고
    • Mechanisms for human genomic rearrangements
    • Gu W, Zhang F, Lupski JR. 2008. Mechanisms for human genomic rearrangements. Patho Genetics 1: 4.
    • (2008) Patho Genetics , vol.1 , pp. 4
    • Gu, W.1    Zhang, F.2    Lupski, J.R.3
  • 27
    • 55549113578 scopus 로고    scopus 로고
    • Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1
    • Hollox EJ, Barber JC, Brookes AJ, Armour JA. 2008. Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res 18: 1686-1697.
    • (2008) Genome Res , vol.18 , pp. 1686-1697
    • Hollox, E.J.1    Barber, J.C.2    Brookes, A.J.3    Armour, J.A.4
  • 28
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia Consortium. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
    • (2008) Nature , vol.455 , pp. 237-241
  • 33
    • 76749088358 scopus 로고    scopus 로고
    • Pathological roles of MAPK signaling pathways in human diseases
    • Kim EK, Choi EJ. 2010. Pathological roles of MAPK signaling pathways in human diseases. Biochim Biophys Acta 1802: 396-405.
    • (2010) Biochim Biophys Acta , vol.1802 , pp. 396-405
    • Kim, E.K.1    Choi, E.J.2
  • 34
    • 36448973787 scopus 로고    scopus 로고
    • Idiographica: A general-purpose web application to build idiograms on-demand for human, mouse and rat
    • Kin T, Ono Y. 2007. Idiographica: a general-purpose web application to build idiograms on-demand for human, mouse and rat. Bioinformatics 23: 2945-2946.
    • (2007) Bioinformatics , vol.23 , pp. 2945-2946
    • Kin, T.1    Ono, Y.2
  • 38
    • 0017711979 scopus 로고
    • Flow cytometric analysis of bromodeoxyuridine-substituted cells stained with 33258 Hoechst
    • Latt SA, George YS, Gray JW. 1977. Flow cytometric analysis of bromodeoxyuridine-substituted cells stained with 33258 Hoechst. J Histochem Cytochem 25: 927-934.
    • (1977) J Histochem Cytochem , vol.25 , pp. 927-934
    • Latt, S.A.1    George, Y.S.2    Gray, J.W.3
  • 40
    • 84896739948 scopus 로고    scopus 로고
    • Single cell genomics: Advances and future perspectives
    • Macaulay IC, Voet T. 2014. Single cell genomics: advances and future perspectives. PLoS Genet 10: e1004126.
    • (2014) PLoS Genet , vol.10 , pp. e1004126
    • Macaulay, I.C.1    Voet, T.2
  • 41
    • 84891783452 scopus 로고    scopus 로고
    • The Database of Genomic Variants: A curated collection of structural variation in the human genome
    • MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW. 2014. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 42: D986-D992.
    • (2014) Nucleic Acids Res , vol.42 , pp. D986-D992
    • MacDonald, J.R.1    Ziman, R.2    Yuen, R.K.3    Feuk, L.4    Scherer, S.W.5
  • 43
    • 0027225619 scopus 로고
    • Cytokine-induced selective expansion and maturation of erythroid versus myeloid progenitors from purified cord blood precursor cells
    • Mayani H, Dragowska W, Lansdorp PM. 1993. Cytokine-induced selective expansion and maturation of erythroid versus myeloid progenitors from purified cord blood precursor cells. Blood 81: 3252-3258.
    • (1993) Blood , vol.81 , pp. 3252-3258
    • Mayani, H.1    Dragowska, W.2    Lansdorp, P.M.3
  • 46
    • 79960106880 scopus 로고    scopus 로고
    • Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment
    • Notta F, Doulatov S, Laurenti E, Poeppl A, Jurisica I, Dick JE. 2011. Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment. Science 333: 218-221.
    • (2011) Science , vol.333 , pp. 218-221
    • Notta, F.1    Doulatov, S.2    Laurenti, E.3    Poeppl, A.4    Jurisica, I.5    Dick, J.E.6
  • 49
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: A flexible suite of utilities for comparing genomic features
    • Quinlan AR, Hall IM. 2010. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26: 841-842.
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 51
    • 84995673327 scopus 로고    scopus 로고
    • Vienna, Austria
    • R Foundation for Statistical Computing, Vienna, Austria. http://www.R-project.org/.
  • 52
    • 84975741816 scopus 로고    scopus 로고
    • Characterization of structural variants with single molecule and hybrid sequencing approaches
    • Ritz A, Bashir A, Sindi S, Hsu D, Hajirasouliha I, Raphael BJ. 2014. Characterization of structural variants with single molecule and hybrid sequencing approaches. Bioinformatics 30: 3458-3466.
    • (2014) Bioinformatics , vol.30 , pp. 3458-3466
    • Ritz, A.1    Bashir, A.2    Sindi, S.3    Hsu, D.4    Hajirasouliha, I.5    Raphael, B.J.6
  • 54
    • 0036245495 scopus 로고    scopus 로고
    • Segmental duplications and the evolution of the primate genome
    • Samonte RV, Eichler EE. 2002. Segmental duplications and the evolution of the primate genome. Nat Rev Genet 3: 65-72.
    • (2002) Nat Rev Genet , vol.3 , pp. 65-72
    • Samonte, R.V.1    Eichler, E.E.2
  • 57
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • Stankiewicz P, Lupski JR. 2010. Structural variation in the human genome and its role in disease. Annu Rev Med 61: 437-455.
    • (2010) Annu Rev Med , vol.61 , pp. 437-455
    • Stankiewicz, P.1    Lupski, J.R.2
  • 64
    • 26444529054 scopus 로고    scopus 로고
    • A novel gene family NBPF: Intricate structure generated by gene duplications during primate evolution
    • Vandepoele K, Van Roy N, Staes K, Speleman F, van Roy F. 2005. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Mol Biol Evol 22: 2265-2274.
    • (2005) Mol Biol Evol , vol.22 , pp. 2265-2274
    • Vandepoele, K.1    Van-Roy, N.2    Staes, K.3    Speleman, F.4    Van-Roy, F.5
  • 65
    • 84863236756 scopus 로고    scopus 로고
    • Testing departure from Hardy-Weinberg proportions
    • Wang J, Shete S. 2012. Testing departure from Hardy-Weinberg proportions. Methods Mol Biol 850: 77-102.
    • (2012) Methods Mol Biol , vol.850 , pp. 77-102
    • Wang, J.1    Shete, S.2
  • 67
    • 1842530039 scopus 로고    scopus 로고
    • A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities
    • Youings S, Ellis K, Ennis S, Barber J, Jacobs P. 2004. A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. Am J Med Genet A 126A: 46-60.
    • (2004) Am J Med Genet A , vol.126 A , pp. 46-60
    • Youings, S.1    Ellis, K.2    Ennis, S.3    Barber, J.4    Jacobs, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.