메뉴 건너뛰기




Volumn 10, Issue 3, 2014, Pages

Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 84897392971     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004208     Document Type: Article
Times cited : (20)

References (81)
  • 1
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, 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    Pinto, D.2    Redon, R.3    Feuk, L.4    Gokcumen, O.5
  • 3
    • 77950405093 scopus 로고    scopus 로고
    • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
    • Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, et al. (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464: 713-720.
    • (2010) Nature , vol.464 , pp. 713-720
    • Craddock, N.1    Hurles, M.E.2    Cardin, N.3    Pearson, R.D.4    Plagnol, V.5
  • 4
    • 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
  • 5
    • 58549086375 scopus 로고    scopus 로고
    • Revisiting the impact of inversions in evolution: From population genetic markers to drivers of adaptive shifts and speciation?
    • Hoffmann AA, Rieseberg LH, (2008) Revisiting the impact of inversions in evolution: From population genetic markers to drivers of adaptive shifts and speciation? Annu Rev Ecol Evol Syst 39: 21-42.
    • (2008) Annu Rev Ecol Evol Syst , vol.39 , pp. 21-42
    • Hoffmann, A.A.1    Rieseberg, L.H.2
  • 6
    • 77957889544 scopus 로고    scopus 로고
    • How and why chromosome inversions evolve
    • Kirkpatrick M, (2012) How and why chromosome inversions evolve. PLoS Biol 8: e1000501.
    • (2012) PLoS Biol , vol.8
    • Kirkpatrick, M.1
  • 7
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J, (1993) Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 5: 236-241.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 8
    • 55749097633 scopus 로고    scopus 로고
    • Chromosome 17: association of a large inversion polymorphism with corticosteroid response in asthma
    • Tantisira KG, Lazarus R, Litonjua AA, Klanderman B, Weiss ST, (2008) Chromosome 17: association of a large inversion polymorphism with corticosteroid response in asthma. Pharmacogenet Genomics 18: 733-737.
    • (2008) Pharmacogenet Genomics , vol.18 , pp. 733-737
    • Tantisira, K.G.1    Lazarus, R.2    Litonjua, A.A.3    Klanderman, B.4    Weiss, S.T.5
  • 9
    • 0031005848 scopus 로고    scopus 로고
    • Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
    • Small K, Iber J, Warren ST, (1997) Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat Genet 16: 96-99.
    • (1997) Nat Genet , vol.16 , pp. 96-99
    • Small, K.1    Iber, J.2    Warren, S.T.3
  • 10
    • 0031964345 scopus 로고    scopus 로고
    • Emerin deletions occurring on both Xq28 inversion backgrounds
    • Small K, Warren ST, (1998) Emerin deletions occurring on both Xq28 inversion backgrounds. Hum Mol Genet 7: 135-139.
    • (1998) Hum Mol Genet , vol.7 , pp. 135-139
    • Small, K.1    Warren, S.T.2
  • 11
    • 0036071427 scopus 로고    scopus 로고
    • Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
    • Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, et al. (2002) 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) Am J Hum Genet , vol.71 , pp. 276-285
    • Giglio, S.1    Calvari, V.2    Gregato, G.3    Gimelli, G.4    Camanini, S.5
  • 12
  • 13
    • 33748323156 scopus 로고    scopus 로고
    • A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
    • Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, et al. (2006) A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38: 999-1001.
    • (2006) Nat Genet , vol.38 , pp. 999-1001
    • Koolen, D.A.1    Vissers, L.E.2    Pfundt, R.3    de Leeuw, N.4    Knight, S.J.5
  • 15
    • 61749084099 scopus 로고    scopus 로고
    • A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population
    • Entesarian M, Carlsson B, Mansouri MR, Stattin EL, Holmberg E, et al. (2009) A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population. Am J Med Genet A 149A: 380-386.
    • (2009) Am J Med Genet A , vol.149 A , pp. 380-386
    • Entesarian, M.1    Carlsson, B.2    Mansouri, M.R.3    Stattin, E.L.4    Holmberg, E.5
  • 16
    • 33646045377 scopus 로고    scopus 로고
    • Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans
    • Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, et al. (2006) Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. Am J Hum Genet 78: 878-883.
    • (2006) Am J Hum Genet , vol.78 , pp. 878-883
    • Gilling, M.1    Dullinger, J.S.2    Gesk, S.3    Metzke-Heidemann, S.4    Siebert, R.5
  • 17
    • 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, Pujana MA, Patricelli MG, Russo S, Giardino D, et al. (2003) 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) Hum Mol Genet , vol.12 , pp. 849-858
    • Gimelli, G.1    Pujana, M.A.2    Patricelli, M.G.3    Russo, S.4    Giardino, D.5
  • 18
    • 19944419749 scopus 로고    scopus 로고
    • The sequence and analysis of duplication-rich human chromosome 16
    • Martin J, Han C, Gordon LA, Terry A, Prabhakar S, et al. (2004) The sequence and analysis of duplication-rich human chromosome 16. Nature 432: 988-994.
    • (2004) Nature , vol.432 , pp. 988-994
    • Martin, J.1    Han, C.2    Gordon, L.A.3    Terry, A.4    Prabhakar, S.5
  • 19
    • 0035179436 scopus 로고    scopus 로고
    • A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
    • Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, et al. (2001) A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29: 321-325.
    • (2001) Nat Genet , vol.29 , pp. 321-325
    • Osborne, L.R.1    Li, M.2    Pober, B.3    Chitayat, D.4    Bodurtha, J.5
  • 20
    • 84873081003 scopus 로고    scopus 로고
    • Mechanisms of formation of structural variation in a fully sequenced human genome
    • Pang AW, Migita O, 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
    • Pang, A.W.1    Migita, O.2    Macdonald, J.R.3    Feuk, L.4    Scherer, S.W.5
  • 21
    • 84861879064 scopus 로고    scopus 로고
    • The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism
    • Salm MP, Horswell SD, Hutchison CE, Speedy HE, Yang X, et al. (2012) The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism. Genome Res 22: 1144-1153.
    • (2012) Genome Res , vol.22 , pp. 1144-1153
    • Salm, M.P.1    Horswell, S.D.2    Hutchison, C.E.3    Speedy, H.E.4    Yang, X.5
  • 22
    • 0036930737 scopus 로고    scopus 로고
    • Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements
    • Starke H, Seidel J, Henn W, Reichardt S, Volleth M, et al. (2002) Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 10: 790-800.
    • (2002) Eur J Hum Genet , vol.10 , pp. 790-800
    • Starke, H.1    Seidel, J.2    Henn, W.3    Reichardt, S.4    Volleth, M.5
  • 23
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, 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    Cooper, G.M.2    Donahue, W.F.3    Hayden, H.S.4    Sampas, N.5
  • 24
    • 79251493015 scopus 로고    scopus 로고
    • A human genome structural variation sequencing resource reveals insights into mutational mechanisms
    • Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, et al. (2010) A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell 143: 837-847.
    • (2010) Cell , vol.143 , pp. 837-847
    • Kidd, J.M.1    Graves, T.2    Newman, T.L.3    Fulton, R.4    Hayden, H.S.5
  • 25
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end mapping reveals extensive structural variation in the human genome
    • Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, 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    Urban, A.E.2    Affourtit, J.P.3    Godwin, B.4    Grubert, F.5
  • 27
    • 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, et al. (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
    • Feuk, L.1    MacDonald, J.R.2    Tang, T.3    Carson, A.R.4    Li, M.5
  • 29
    • 69749124820 scopus 로고    scopus 로고
    • The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group
    • Ahn SM, Kim TH, Lee S, Kim D, Ghang H, et al. (2009) The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res 19: 1622-1629.
    • (2009) Genome Res , vol.19 , pp. 1622-1629
    • Ahn, S.M.1    Kim, T.H.2    Lee, S.3    Kim, D.4    Ghang, H.5
  • 30
    • 69749090013 scopus 로고    scopus 로고
    • Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
    • McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, et al. (2009) Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 19: 1527-1541.
    • (2009) Genome Res , vol.19 , pp. 1527-1541
    • McKernan, K.J.1    Peckham, H.E.2    Costa, G.L.3    McLaughlin, S.F.4    Fu, Y.5
  • 32
    • 55549097849 scopus 로고    scopus 로고
    • The diploid genome sequence of an Asian individual
    • Wang J, Wang W, Li R, Li Y, Tian G, 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    Wang, W.2    Li, R.3    Li, Y.4    Tian, G.5
  • 33
    • 84876579655 scopus 로고    scopus 로고
    • On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing
    • Lucas-Lledó JI, Cáceres M, (2013) On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing. PLoS One 8: e61292.
    • (2013) PLoS One , vol.8
    • Lucas-Lledó, J.I.1    Cáceres, M.2
  • 34
    • 80054708906 scopus 로고    scopus 로고
    • Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond
    • Onishi-Seebacher M, Korbel JO, (2011) Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond. Bioessays 33: 840-850.
    • (2011) Bioessays , vol.33 , pp. 840-850
    • Onishi-Seebacher, M.1    Korbel, J.O.2
  • 35
    • 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
  • 36
    • 84863611763 scopus 로고    scopus 로고
    • Investigation of inversion polymorphisms in the human genome using principal components analysis
    • Ma J, Amos CI, (2012) Investigation of inversion polymorphisms in the human genome using principal components analysis. PLoS One 7: e40224.
    • (2012) PLoS One , vol.7
    • Ma, J.1    Amos, C.I.2
  • 38
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
    • Liu Q, Nozari G, Sommer SS, (1998) Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 92: 1458-1459.
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 39
    • 80055055410 scopus 로고    scopus 로고
    • Eighteen years of molecular genotyping the hemophilia inversion hotspot: From southern blot to inverse shifting-PCR
    • Rossetti LC, Radic CP, Abelleyro MM, Larripa IB, De Brasi CD, (2011) Eighteen years of molecular genotyping the hemophilia inversion hotspot: From southern blot to inverse shifting-PCR. Int J Mol Sci 12: 7271-7285.
    • (2011) Int J Mol Sci , vol.12 , pp. 7271-7285
    • Rossetti, L.C.1    Radic, C.P.2    Abelleyro, M.M.3    Larripa, I.B.4    De Brasi, C.D.5
  • 40
    • 33744514622 scopus 로고    scopus 로고
    • Assaying chromosomal inversions by single-molecule haplotyping
    • Turner DJ, Shendure J, Porreca G, Church G, Green P, et al. (2006) Assaying chromosomal inversions by single-molecule haplotyping. Nat Methods 3: 439-445.
    • (2006) Nat Methods , vol.3 , pp. 439-445
    • Turner, D.J.1    Shendure, J.2    Porreca, G.3    Church, G.4    Green, P.5
  • 41
    • 48349124290 scopus 로고    scopus 로고
    • Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping
    • Turner DJ, Tyler-Smith C, Hurles ME, (2008) Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping. Nucleic Acids Res 36: e82.
    • (2008) Nucleic Acids Res , vol.36
    • Turner, D.J.1    Tyler-Smith, C.2    Hurles, M.E.3
  • 42
    • 0023691425 scopus 로고
    • Genetic applications of an inverse polymerase chain reaction
    • Ochman H, Gerber AS, Hartl DL, (1988) Genetic applications of an inverse polymerase chain reaction. Genetics 120: 621-623.
    • (1988) Genetics , vol.120 , pp. 621-623
    • Ochman, H.1    Gerber, A.S.2    Hartl, D.L.3
  • 43
    • 84857227744 scopus 로고    scopus 로고
    • Identification of DNA sequences that flank a known region by inverse PCR
    • Pavlopoulos A, (2011) Identification of DNA sequences that flank a known region by inverse PCR. Methods Mol Biol 772: 267-275.
    • (2011) Methods Mol Biol , vol.772 , pp. 267-275
    • Pavlopoulos, A.1
  • 44
    • 84355166478 scopus 로고    scopus 로고
    • Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)
    • Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, et al. (2012) Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet A 158A: 199-205.
    • (2012) Am J Med Genet A , vol.158 A , pp. 199-205
    • Saitsu, H.1    Osaka, H.2    Sugiyama, S.3    Kurosawa, K.4    Mizuguchi, T.5
  • 45
    • 84856391344 scopus 로고    scopus 로고
    • Identification of chromosomal breakpoints of cancer-specific translocations by rolling circle amplification and long-distance inverse PCR
    • Thorsen J, Micci F, Heim S, (2011) Identification of chromosomal breakpoints of cancer-specific translocations by rolling circle amplification and long-distance inverse PCR. Cancer Genet 204: 458-461.
    • (2011) Cancer Genet , vol.204 , pp. 458-461
    • Thorsen, J.1    Micci, F.2    Heim, S.3
  • 46
    • 84855481366 scopus 로고    scopus 로고
    • Generation of long insert pairs using a Cre-LoxP Inverse PCR approach
    • Peng Z, Zhao Z, Nath N, Froula JL, Clum A, et al. (2012) Generation of long insert pairs using a Cre-LoxP Inverse PCR approach. PLoS One 7: e29437.
    • (2012) PLoS One , vol.7
    • Peng, Z.1    Zhao, Z.2    Nath, N.3    Froula, J.L.4    Clum, A.5
  • 47
    • 23344454962 scopus 로고    scopus 로고
    • Genotyping the hemophilia inversion hotspot by use of inverse PCR
    • Rossetti LC, Radic CP, Larripa IB, De Brasi CD, (2005) Genotyping the hemophilia inversion hotspot by use of inverse PCR. Clin Chem 51: 1154-1158.
    • (2005) Clin Chem , vol.51 , pp. 1154-1158
    • Rossetti, L.C.1    Radic, C.P.2    Larripa, I.B.3    De Brasi, C.D.4
  • 48
    • 42149170507 scopus 로고    scopus 로고
    • Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene
    • Rossetti LC, Radic CP, Larripa IB, De Brasi CD, (2008) Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 6: 830-836.
    • (2008) J Thromb Haemost , vol.6 , pp. 830-836
    • Rossetti, L.C.1    Radic, C.P.2    Larripa, I.B.3    De Brasi, C.D.4
  • 49
    • 79956154404 scopus 로고    scopus 로고
    • Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients
    • Abou-Elew H, Ahmed H, Raslan H, Abdelwahab M, Hammoud R, et al. (2011) Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients. Ann Hematol 90: 579-584.
    • (2011) Ann Hematol , vol.90 , pp. 579-584
    • Abou-Elew, H.1    Ahmed, H.2    Raslan, H.3    Abdelwahab, M.4    Hammoud, R.5
  • 50
    • 84866867920 scopus 로고    scopus 로고
    • A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors
    • Fujita J, Miyawaki Y, Suzuki A, Maki A, Okuyama E, et al. (2012) A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors. J Thromb Haemost 10: 2099-2107.
    • (2012) J Thromb Haemost , vol.10 , pp. 2099-2107
    • Fujita, J.1    Miyawaki, Y.2    Suzuki, A.3    Maki, A.4    Okuyama, E.5
  • 51
    • 84860325486 scopus 로고    scopus 로고
    • A modified I-PCR to detect the factor VIII Inv22 for genetic diagnosis and prenatal diagnosis in haemophilia A
    • He ZH, Chen SF, Chen J, Jiang WY, (2012) A modified I-PCR to detect the factor VIII Inv22 for genetic diagnosis and prenatal diagnosis in haemophilia A. Haemophilia 18: 452-456.
    • (2012) Haemophilia , vol.18 , pp. 452-456
    • He, Z.H.1    Chen, S.F.2    Chen, J.3    Jiang, W.Y.4
  • 52
  • 56
    • 33749447996 scopus 로고    scopus 로고
    • Enrichment of circularized target DNA by inverse polymerase chain reaction
    • Wo YY, Peng SH, Pan FM, (2006) Enrichment of circularized target DNA by inverse polymerase chain reaction. Anal Biochem 358: 149-151.
    • (2006) Anal Biochem , vol.358 , pp. 149-151
    • Wo, Y.Y.1    Peng, S.H.2    Pan, F.M.3
  • 57
    • 0242691208 scopus 로고    scopus 로고
    • A comparison of bayesian methods for haplotype reconstruction from population genotype data
    • Stephens M, Donnelly P, (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73: 1162-1169.
    • (2003) Am J Hum Genet , vol.73 , pp. 1162-1169
    • Stephens, M.1    Donnelly, P.2
  • 58
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P, (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68: 978-989.
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 59
    • 36749059019 scopus 로고    scopus 로고
    • A recurrent inversion on the eutherian X chromosome
    • National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program
    • Cáceres M, (2007) National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program (2007) Sullivan RT, Thomas JW, (2007) A recurrent inversion on the eutherian X chromosome. Proc Natl Acad Sci U S A 104: 18571-18576.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 18571-18576
    • Cáceres, M.1    Sullivan, R.T.2    Thomas, J.W.3
  • 61
    • 84864258558 scopus 로고    scopus 로고
    • Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm
    • Wang J, Fan HC, Behr B, Quake SR, (2012) Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm. Cell 150: 402-412.
    • (2012) Cell , vol.150 , pp. 402-412
    • Wang, J.1    Fan, H.C.2    Behr, B.3    Quake, S.R.4
  • 62
    • 77950421729 scopus 로고    scopus 로고
    • Genetic interference: don't stand so close to me
    • Berchowitz LE, Copenhaver GP, (2010) Genetic interference: don't stand so close to me. Curr Genomics 11: 91-102.
    • (2010) Curr Genomics , vol.11 , pp. 91-102
    • Berchowitz, L.E.1    Copenhaver, G.P.2
  • 64
    • 79960719205 scopus 로고    scopus 로고
    • Genetic flux between h1 and h2 haplotypes of the 17q21.31 inversion in European population
    • Deng L, Tang X, Hao X, Chen W, Lin J, et al. (2011) Genetic flux between h1 and h2 haplotypes of the 17q21.31 inversion in European population. Genomics Proteomics Bioinformatics 9: 113-118.
    • (2011) Genomics Proteomics Bioinformatics , vol.9 , pp. 113-118
    • Deng, L.1    Tang, X.2    Hao, X.3    Chen, W.4    Lin, J.5
  • 65
    • 84868143643 scopus 로고    scopus 로고
    • The many landscapes of recombination in Drosophila melanogaster
    • Comeron JM, Ratnappan R, Bailin S, (2012) The many landscapes of recombination in Drosophila melanogaster. PLoS Genet 8: e1002905.
    • (2012) PLoS Genet , vol.8
    • Comeron, J.M.1    Ratnappan, R.2    Bailin, S.3
  • 66
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • Bagnall RD, Waseem N, Green PM, Giannelli F, (2002) Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 99: 168-174.
    • (2002) Blood , vol.99 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 67
    • 50449104624 scopus 로고    scopus 로고
    • Evolutionary toggling of the MAPT 17q21.31 inversion region
    • Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, et al. (2008) Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet 40: 1076-1083.
    • (2008) Nat Genet , vol.40 , pp. 1076-1083
    • Zody, M.C.1    Jiang, Z.2    Fung, H.C.3    Antonacci, F.4    Hillier, L.W.5
  • 68
    • 35348970822 scopus 로고    scopus 로고
    • The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity
    • Fickelscher I, Liehr T, Watts K, Bryant V, Barber JC, et al. (2007) The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. Am J Hum Genet 81: 847-856.
    • (2007) Am J Hum Genet , vol.81 , pp. 847-856
    • Fickelscher, I.1    Liehr, T.2    Watts, K.3    Bryant, V.4    Barber, J.C.5
  • 70
    • 84856582662 scopus 로고    scopus 로고
    • High rates of de novo 15q11q13 inversions in human spermatozoa
    • Molina O, Anton E, Vidal F, Blanco J, (2012) High rates of de novo 15q11q13 inversions in human spermatozoa. Mol Cytogenet 5: 11.
    • (2012) Mol Cytogenet , vol.5 , pp. 11
    • Molina, O.1    Anton, E.2    Vidal, F.3    Blanco, J.4
  • 72
    • 84876532610 scopus 로고    scopus 로고
    • Database resources of the National Center for Biotechnology Information
    • NCBI Resource Coordinators
    • NCBI Resource Coordinators (2013) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 41: D8-D20.
    • (2013) Nucleic Acids Res , vol.41
  • 73
    • 0042622239 scopus 로고    scopus 로고
    • NEBcutter: A program to cleave DNA with restriction enzymes
    • Vincze T, Posfai J, Roberts RJ, (2003) NEBcutter: A program to cleave DNA with restriction enzymes. Nucleic Acids Res 31: 3688-3691.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3688-3691
    • Vincze, T.1    Posfai, J.2    Roberts, R.J.3
  • 75
    • 17344392308 scopus 로고    scopus 로고
    • A new mathematical model for relative quantification in real-time RT-PCR
    • Pfaffl MW, (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29: e45.
    • (2001) Nucleic Acids Res , vol.29
    • Pfaffl, M.W.1
  • 76
    • 85007110786 scopus 로고    scopus 로고
    • Arlequin (version 3.0): an integrated software package for population genetics data analysis
    • Excoffier L, Laval G, Schneider S, (2005) Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online 1: 47-50.
    • (2005) Evol Bioinform Online , vol.1 , pp. 47-50
    • Excoffier, L.1    Laval, G.2    Schneider, S.3
  • 77
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 78
    • 0032900678 scopus 로고    scopus 로고
    • Median-joining networks for inferring intraspecific phylogenies
    • Bandelt HJ, Forster P, Rohl A, (1999) Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16: 37-48.
    • (1999) Mol Biol Evol , vol.16 , pp. 37-48
    • Bandelt, H.J.1    Forster, P.2    Rohl, A.3
  • 79
    • 0000122573 scopus 로고
    • PHYLIP - Phylogeny Inference Package (Version 3.2)
    • Felsenstein J, (1989) PHYLIP- Phylogeny Inference Package (Version 3.2). Cladistics 5: 164-166.
    • (1989) Cladistics , vol.5 , pp. 164-166
    • Felsenstein, J.1
  • 80
    • 84867331947 scopus 로고    scopus 로고
    • A high-coverage genome sequence from an archaic Denisovan individual
    • Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, et al. (2012) A high-coverage genome sequence from an archaic Denisovan individual. Science 338: 222-226.
    • (2012) Science , vol.338 , pp. 222-226
    • Meyer, M.1    Kircher, M.2    Gansauge, M.T.3    Li, H.4    Racimo, F.5
  • 81
    • 65649117685 scopus 로고    scopus 로고
    • DnaSP v5: a software for comprehensive analysis of DNA polymorphism data
    • Librado P, Rozas J, (2009) DnaSP v5: a software for comprehensive analysis of DNA polymorphism data. Bioinformatics 25: 1451-1452.
    • (2009) Bioinformatics , vol.25 , pp. 1451-1452
    • Librado, P.1    Rozas, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.