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Volumn 25, Issue 6, 2015, Pages 792-801

Characteristics of de novo structural changes in the human genome

(71)  Kloosterman, Wigard P a   Francioli, Laurent C a   Hormozdiari, Fereydoun b   Marschall, Tobias c   Hehir Kwa, Jayne Y d   Abdellaoui, Abdel e   Lameijer, Eric Wubbo f   Moed, Matthijs H f   Koval, Vyacheslav g   Renkens, Ivo a   Van Roosmalen, Markus J a   Arp, Pascal g   Karssen, Lennart C g   Coe, Bradley P b   Handsaker, Robert E h   Suchiman, Eka D f   Cuppen, Edwin a   Thung, Djie Tjwan d   McVey, Mitch i   Wendl, Michael C j,k   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA END JOINING REPAIR; DNA REPLICATION; DOUBLE STRANDED DNA BREAK; GENE MUTATION; GENE STRUCTURE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN GENOME; INDEL MUTATION; MUTATION RATE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; RETROPOSON; TANDEM REPEAT; VARIABLE NUMBER OF TANDEM REPEAT; ALLELE; AMINO ACID SEQUENCE; DNA SEQUENCE; FEMALE; GENETIC VARIATION; GENETICS; GENOMICS; MALE; MOLECULAR GENETICS; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84931833875     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.185041.114     Document Type: Article
Times cited : (101)

References (62)
  • 1
    • 79951970227 scopus 로고    scopus 로고
    • CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
    • Abyzov A, Urban AE, Snyder M, Gerstein M. 2011. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21: 974-984.
    • (2011) Genome Res , vol.21 , pp. 974-984
    • Abyzov, A.1    Urban, A.E.2    Snyder, M.3    Gerstein, M.4
  • 2
    • 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
  • 3
    • 0028043602 scopus 로고
    • Molecular analysis of a complex chromosomal rearrangement and a review of familial cases
    • Batista DAS, Pai GS, Stetten G. 1994. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet 53: 255-263.
    • (1994) Am J Med Genet , vol.53 , pp. 255-263
    • Das, B.1    Pai, G.S.2    Stetten, G.3
  • 4
    • 40449139336 scopus 로고    scopus 로고
    • Mammalian non-LTR retro-transposons: For better or worse, in sickness and in health
    • Belancio VP, Hedges DJ, Deininger P. 2008. Mammalian non-LTR retro-transposons: for better or worse, in sickness and in health. Genome Res 18: 343-358.
    • (2008) Genome Res , vol.18 , pp. 343-358
    • Belancio, V.P.1    Hedges, D.J.2    Deininger, P.3
  • 6
    • 12344307147 scopus 로고    scopus 로고
    • Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes
    • Bhangale TR, Rieder MJ, Livingston RJ, Nickerson DA. 2005. Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet 14: 59-69.
    • (2005) Hum Mol Genet , vol.14 , pp. 59-69
    • Bhangale, T.R.1    Rieder, M.J.2    Livingston, R.J.3    Nickerson, D.A.4
  • 8
    • 84860879005 scopus 로고    scopus 로고
    • Human transposon tectonics
    • Burns KH, Boeke JD. 2012. Human transposon tectonics. Cell 149: 740-752.
    • (2012) Cell , vol.149 , pp. 740-752
    • Burns, K.H.1    Boeke, J.D.2
  • 9
    • 84884413307 scopus 로고    scopus 로고
    • Properties and rates of germline mutations in humans
    • Campbell CD, Eichler EE. 2013. Properties and rates of germline mutations in humans. Trends Genet 29: 575-584.
    • (2013) Trends Genet , vol.29 , pp. 575-584
    • Campbell, C.D.1    Eichler, E.E.2
  • 12
    • 77956113158 scopus 로고    scopus 로고
    • FACADE: A fast and sensitive algorithm for the segmentation and calling of high resolution array CGH data
    • Coe BP, Chari R, MacAulay C, Lam WL. 2010. FACADE: a fast and sensitive algorithm for the segmentation and calling of high resolution array CGH data. Nucleic Acids Res 38: e157.
    • (2010) Nucleic Acids Res , vol.38 , pp. e157
    • Coe, B.P.1    Chari, R.2    Macaulay, C.3    Lam, W.L.4
  • 17
    • 34250305146 scopus 로고    scopus 로고
    • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
    • The Encode Project Consortium. 2007. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447: 799-816.
    • (2007) Nature , vol.447 , pp. 799-816
    • The Encode Project Consortium1
  • 20
    • 79952194317 scopus 로고    scopus 로고
    • Discovery and gen-otyping of genome structural polymorphism by sequencing on a population scale
    • Handsaker RE, Korn JM, Nemesh J, McCarroll SA. 2011. Discovery and gen-otyping of genome structural polymorphism by sequencing on a population scale. Nat Genet 43: 269-276.
    • (2011) Nat Genet , vol.43 , pp. 269-276
    • Handsaker, R.E.1    Korn, J.M.2    Nemesh, J.3    McCarroll, S.A.4
  • 23
    • 83555164890 scopus 로고    scopus 로고
    • Genome arrays for the detection of copy number variations in idiopath-ic mental retardation, idiopathic generalized epilepsy and neuropsychi-atric disorders: Lessons for diagnostic workflow and research
    • Hochstenbach R, Buizer-Voskamp JE, Vorstman JAS, Ophoff RA. 2011. Genome arrays for the detection of copy number variations in idiopath-ic mental retardation, idiopathic generalized epilepsy and neuropsychi-atric disorders: lessons for diagnostic workflow and research. Cytogenet Genome Res 135: 174-202.
    • (2011) Cytogenet Genome Res , vol.135 , pp. 174-202
    • Hochstenbach, R.1    Buizer-Voskamp, J.E.2    Jas, V.3    Ophoff, R.A.4
  • 26
    • 84881664021 scopus 로고    scopus 로고
    • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    • Jiang Y, Yuen RKC, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, et al. 2013. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet 93: 249-263.
    • (2013) Am J Hum Genet , vol.93 , pp. 249-263
    • Jiang, Y.1    Rkc, Y.2    Jin, X.3    Wang, M.4    Chen, N.5    Wu, X.6    Ju, J.7    Mei, J.8    Shi, Y.9    He, M.10
  • 29
    • 0037224621 scopus 로고    scopus 로고
    • Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases
    • Kondrashov AS. 2003. Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat 21: 12-27.
    • (2003) Hum Mutat , vol.21 , pp. 12-27
    • Kondrashov, A.S.1
  • 35
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R. 2009. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 36
    • 80053357385 scopus 로고    scopus 로고
    • Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor
    • Londin ER, Keller MA, D'Andrea MR, Delgrosso K, Ertel A, Surrey S, Fortina P. 2011. Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor. BMC Genomics 12: 464.
    • (2011) BMC Genomics , vol.12 , pp. 464
    • Londin, E.R.1    Keller, M.A.2    D'Andrea, M.R.3    Delgrosso, K.4    Ertel, A.5    Surrey, S.6    Fortina, P.7
  • 38
    • 75749103383 scopus 로고    scopus 로고
    • Rate, molecular spectrum, and consequences of human mutation
    • Lynch M. 2010. Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci 107: 961-968.
    • (2010) Proc Natl Acad Sci , vol.107 , pp. 961-968
    • Lynch, M.1
  • 39
    • 84900348313 scopus 로고    scopus 로고
    • MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels
    • Marschall T, Hajirasouliha I, Schönhuth A. 2013. MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels. Bioinformatics 29: 3143-3150.
    • (2013) Bioinformatics , vol.29 , pp. 3143-3150
    • Marschall, T.1    Hajirasouliha, I.2    Schönhuth, A.3
  • 40
    • 54849404458 scopus 로고    scopus 로고
    • MMEJ repair of double-strand breaks (director's cut): Deleted sequences and alternative endings
    • McVey M, Lee SE. 2008. MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. Trends Genet 24: 529-538.
    • (2008) Trends Genet , vol.24 , pp. 529-538
    • McVey, M.1    Lee, S.E.2
  • 45
    • 84873081003 scopus 로고    scopus 로고
    • Mechanisms of formation of structural variation in a fully sequenced human genome
    • Pang AWC, MigitaO, Macdonald JR, Feuk L, Scherer SW. 2013. Mechanisms of formation of structural variation in a fully sequenced human genome. Hum Mutat 34: 345-354.
    • (2013) Hum Mutat , vol.34 , pp. 345-354
    • Awc, P.1    Migitao Macdonald, J.R.2    Feuk, L.3    Scherer, S.W.4
  • 49
    • 84901823399 scopus 로고    scopus 로고
    • Polymerase θ-mediated end joining of replication-associated DNA breaks in C. Elegans
    • Roerink SF, van Schendel R, Tijsterman M. 2014. Polymerase θ-mediated end joining of replication-associated DNA breaks in C. elegans. Genome Res 24: 954-962.
    • (2014) Genome Res , vol.24 , pp. 954-962
    • Roerink, S.F.1    Van Schendel, R.2    Tijsterman, M.3
  • 51
    • 84865856910 scopus 로고    scopus 로고
    • Revising the human mutation rate: Implications for understanding human evolution
    • Scally A, Durbin R. 2012. Revising the human mutation rate: implications for understanding human evolution. Nat Rev Genet 13: 745-753.
    • (2012) Nat Rev Genet , vol.13 , pp. 745-753
    • Scally, A.1    Durbin, R.2
  • 54
    • 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
  • 59
    • 84863970074 scopus 로고    scopus 로고
    • De novo mutations in human genetic disease
    • Veltman JA, Brunner HG. 2012. De novo mutations in human genetic disease. Nat Rev Genet 13: 565-575.
    • (2012) Nat Rev Genet , vol.13 , pp. 565-575
    • Veltman, J.A.1    Brunner, H.G.2
  • 61
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • YeK, Schulz MH, Long Q, ApweilerR, Ning Z. 2009. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25: 2865-2871.
    • (2009) Bioinformatics , vol.25 , pp. 2865-2871
    • Yek Schulz, M.H.1    Long, Q.2    Apweilerr Ning, Z.3
  • 62
    • 77957235402 scopus 로고    scopus 로고
    • Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions
    • Yu AM, McVey M. 2010. Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions. Nucleic Acids Res 38: 5706-5717.
    • (2010) Nucleic Acids Res , vol.38 , pp. 5706-5717
    • Yu, A.M.1    McVey, M.2


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