-
1
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan, C., Coe, B.P. and Eichler, E.E. (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
-
2
-
-
31144469134
-
Structural variation in the human genome
-
Feuk, L., Carson, A.R. and Scherer, S.W. (2006) Structural variation in the human genome. Nat. Rev. Genet., 7, 85-97.
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 85-97
-
-
Feuk, L.1
Carson, A.R.2
Scherer, S.W.3
-
3
-
-
84872506987
-
Phenotypic impact of genomic structural variation: Insights from and for human disease
-
Weischenfeldt, J., Symmons, O., Spitz, F. and Korbel, J.O. (2013) Phenotypic impact of genomic structural variation: insights from and for human disease. Nat. Rev. Genet., 14, 125-138.
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 125-138
-
-
Weischenfeldt, J.1
Symmons, O.2
Spitz, F.3
Korbel, J.O.4
-
4
-
-
84876527890
-
DbVar and DGVa: Public archives for genomic structural variation
-
Lappalainen, I., Lopez, J., Skipper, L., Hefferon, T., Spalding, J.D., Garner, J., Chen, C., Maguire, M., Corbett, M., Zhou, G. et al. (2013) DbVar and DGVa: public archives for genomic structural variation. Nucleic Acids Res., 41, D936-D941.
-
(2013)
Nucleic Acids Res.
, vol.41
-
-
Lappalainen, I.1
Lopez, J.2
Skipper, L.3
Hefferon, T.4
Spalding, J.D.5
Garner, J.6
Chen, C.7
Maguire, M.8
Corbett, M.9
Zhou, G.10
-
5
-
-
77957550192
-
Public data archives for genomic structural variation
-
Church, D.M., Lappalainen, I., Sneddon, T.P., Hinton, J., Maguire, M., Lopez, J., Garner, J., Paschall, J., DiCuccio, M., Yaschenko, E. et al. (2010) Public data archives for genomic structural variation. Nat. Genet., 42, 813-814.
-
(2010)
Nat. Genet.
, vol.42
, pp. 813-814
-
-
Church, D.M.1
Lappalainen, I.2
Sneddon, T.P.3
Hinton, J.4
Maguire, M.5
Lopez, J.6
Garner, J.7
Paschall, J.8
Dicuccio, M.9
Yaschenko, E.10
-
6
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate, A.J., Feuk, L., Rivera, M.N., Listewnik, M.L., Donahoe, P.K., Qi, Y., Scherer, S.W. and Lee, C. (2004) Detection of large-scale variation in the human genome. Nat. Genet., 36, 949-951.
-
(2004)
Nat. Genet.
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
7
-
-
79251493015
-
A human genome structural variation sequencing resource reveals insights into mutational mechanisms
-
Kidd, J.M., Graves, T., Newman, T.L., Fulton, R., Hayden, H.S., Malig, M., Kallicki, J., Kaul, R., Wilson, R.K. and Eichler, E.E. (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
Malig, M.6
Kallicki, J.7
Kaul, R.8
Wilson, R.K.9
Eichler, E.E.10
-
8
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel, J.O., Urban, A.E., Affourtit, J.P., Godwin, B., Grubert, F., Simons, J.F., Kim, P.M., Palejev, D., Carriero, N.J., Du, L. 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
Simons, J.F.6
Kim, P.M.7
Palejev, D.8
Carriero, N.J.9
Du, L.10
-
9
-
-
84873081003
-
Mechanisms of formation of structural variation in a fully sequenced human genome
-
Pang, A.W.C., Migita, O., Macdonald, J.R., Feuk, L. and Scherer, S.W. (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.C.1
Migita, O.2
MacDonald, J.R.3
Feuk, L.4
Scherer, S.W.5
-
10
-
-
34147145526
-
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
-
Feuk, L., MacDonald, J.R., Tang, T., Carson, A.R., Li, M., Rao, G., Khaja, R. and Scherer, S.W. (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
Rao, G.6
Khaja, R.7
Scherer, S.W.8
-
11
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy, S., Sutton, G., Ng, P.C., Feuk, L., Halpern, A.L., Walenz, B.P., Axelrod, N., Huang, J., Kirkness, E.F., Denisov, G. et al. (2007) The diploid genome sequence of an individual human. PLoS Biol., 5, e254.
-
(2007)
PLoS Biol.
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
Walenz, B.P.6
Axelrod, N.7
Huang, J.8
Kirkness, E.F.9
Denisov, G.10
-
12
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd, J.M., Cooper, G.M., Donahue, W.F., Hayden, H.S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F. 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
Graves, T.6
Hansen, N.7
Teague, B.8
Alkan, C.9
Antonacci, F.10
-
13
-
-
77952296952
-
Towards a comprehensive structural variation map of an individual human genome
-
Pang, A.W., MacDonald, J.R., Pinto, D., Wei, J., Rafiq, M.A., Conrad, D.F., Park, H., Hurles, M.E., Lee, C., Venter, J.C. et al. (2010) Towards a comprehensive structural variation map of an individual human genome. Genome Biol., 11, R52.
-
(2010)
Genome Biol.
, vol.11
-
-
Pang, A.W.1
MacDonald, J.R.2
Pinto, D.3
Wei, J.4
Rafiq, M.A.5
Conrad, D.F.6
Park, H.7
Hurles, M.E.8
Lee, C.9
Venter, J.C.10
-
14
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, 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
Wang, W.2
Li, R.3
Li, Y.4
Tian, G.5
Goodman, L.6
Fan, W.7
Zhang, J.8
Li, J.9
Zhang, J.10
-
15
-
-
69749124820
-
The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group
-
Ahn, S.-M., Kim, T.-H., Lee, S., Kim, D., Ghang, H., Kim, D.-S., Kim, B.-C., Kim, S.-Y., Kim, W.-Y., Kim, C. 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
Kim, D.-S.6
Kim, B.-C.7
Kim, S.-Y.8
Kim, W.-Y.9
Kim, C.10
-
16
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
McKernan, K.J., Peckham, H.E., Costa, G.L., McLaughlin, S.F., Fu, Y., Tsung, E.F., Clouser, C.R., Duncan, C., Ichikawa, J.K., Lee, C.C. 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
Tsung, E.F.6
Clouser, C.R.7
Duncan, C.8
Ichikawa, J.K.9
Lee, C.C.10
-
17
-
-
80054708906
-
Challenges in studying genomic structural variant formation mechanisms: The short-read dilemma and beyond
-
Onishi-Seebacher, M. and Korbel, J.O. (2011) Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond. BioEssays News Rev. Mol. Cell. Dev. Biol., 33, 840-850.
-
(2011)
BioEssays News Rev. Mol. Cell. Dev. Biol.
, vol.33
, pp. 840-850
-
-
Onishi-Seebacher, M.1
Korbel, J.O.2
-
18
-
-
84876579655
-
On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing
-
Lucas Lledo, J.I. and Caceres, 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 Lledo, J.I.1
Caceres, M.2
-
19
-
-
84870196858
-
On the structural plasticity of the human genome: Chromosomal inversions revisited
-
Alves, J.M., Lopes, A.M., Chikhi, L. and Amorim, A. (2012) On the structural plasticity of the human genome: chromosomal inversions revisited. Curr. Genom., 13, 623-632.
-
(2012)
Curr. Genom.
, vol.13
, pp. 623-632
-
-
Alves, J.M.1
Lopes, A.M.2
Chikhi, L.3
Amorim, A.4
-
20
-
-
77954402321
-
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
-
21
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V.G. et al. (2005) A common inversion under selection in Europeans. Nat. Genet., 37, 129-137.
-
(2005)
Nat. Genet.
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
Baker, A.7
Jonasdottir, A.8
Ingason, A.9
Gudnadottir, V.G.10
-
22
-
-
0031005848
-
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
-
Small, K., Iber, J. and Warren, S.T. (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
-
23
-
-
0036071427
-
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., Giorda, R., Ragusa, A., Guerneri, S., Selicorni, A., Stumm, M. 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
Giorda, R.6
Ragusa, A.7
Guerneri, S.8
Selicorni, A.9
Stumm, M.10
-
24
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
-
Osborne, L.R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.C. 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
Mandel, A.6
Costa, T.7
Grebe, T.8
Cox, S.9
Tsui, L.C.10
-
25
-
-
0037447443
-
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
-
Gimelli, G., Pujana, M.A., Patricelli, M.G., Russo, S., Giardino, D., Larizza, L., Cheung, J., Armengol, L., Schinzel, A., Estivill, X. 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
Larizza, L.6
Cheung, J.7
Armengol, L.8
Schinzel, A.9
Estivill, X.10
-
26
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W. et al. (2001) Initial sequencing and analysis of the human genome. Nature, 409, 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
Fitzhugh, W.10
-
27
-
-
79960925372
-
Modernizing Reference Genome Assemblies
-
Church, D.M., Schneider, V.A., Graves, T., Auger, K., Cunningham, F., Bouk, N., Chen, H.-C., Agarwala, R., McLaren, W.M., Ritchie, G.R.S. et al. (2011) Modernizing Reference Genome Assemblies. PLoS Biol., 9, e1001091.
-
(2011)
PLoS Biol.
, vol.9
-
-
Church, D.M.1
Schneider, V.A.2
Graves, T.3
Auger, K.4
Cunningham, F.5
Bouk, N.6
Chen, H.-C.7
Agarwala, R.8
McLaren, W.M.9
Ritchie, G.R.S.10
-
28
-
-
42349111552
-
A universal classification of eukaryotic transposable elements implemented in Repbase
-
Kapitonov, V.V. and Jurka, J. (2008) A universal classification of eukaryotic transposable elements implemented in Repbase. Nat. Rev. Genet., 9, 411-412.
-
(2008)
Nat. Rev. Genet.
, vol.9
, pp. 411-412
-
-
Kapitonov, V.V.1
Jurka, J.2
-
29
-
-
33646045377
-
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans
-
Gilling, M., Dullinger, J.S., Gesk, S., Metzke-Heidemann, S., Siebert, R., Meyer, T., Brondum-Nielsen, K., Tommerup, N., Ropers, H.-H., Tumer, Z. 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
Meyer, T.6
Brondum-Nielsen, K.7
Tommerup, N.8
Ropers, H.-H.9
Tumer, Z.10
-
30
-
-
19944419749
-
The sequence and analysis of duplication-rich human chromosome 16
-
Martin, J., Han, C., Gordon, L.A., Terry, A., Prabhakar, S., She, X., Xie, G., Hellsten, U., Chan, Y.M., Altherr, M. 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
She, X.6
Xie, G.7
Hellsten, U.8
Chan, Y.M.9
Altherr, M.10
-
31
-
-
33744514622
-
Assaying chromosomal inversions by single-molecule haplotyping
-
Turner, D.J., Shendure, J., Porreca, G., Church, G., Green, P., Tyler-Smith, C. and Hurles, M.E. (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
Tyler-Smith, C.6
Hurles, M.E.7
-
32
-
-
67649834757
-
Characterization of six human disease-associated inversion polymorphisms
-
Antonacci, F., Kidd, J.M., Marques-Bonet, T., Ventura, M., Siswara, P., Jiang, Z. and Eichler, E.E. (2009) Characterization of six human disease-associated inversion polymorphisms. Hum. Mol. Genet., 18, 2555-2566.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2555-2566
-
-
Antonacci, F.1
Kidd, J.M.2
Marques-Bonet, T.3
Ventura, M.4
Siswara, P.5
Jiang, Z.6
Eichler, E.E.7
-
33
-
-
18644368714
-
The Bioperl toolkit: Perl modules for the life sciences
-
Stajich, J.E., Block, D., Boulez, K., Brenner, S.E., Chervitz, S.A., Dagdigian, C., Fuellen, G., Gilbert, J.G.R., Korf, I., Lapp, H. et al. (2002) The Bioperl toolkit: Perl modules for the life sciences. Genome Res., 12, 1611-1618.
-
(2002)
Genome Res.
, vol.12
, pp. 1611-1618
-
-
Stajich, J.E.1
Block, D.2
Boulez, K.3
Brenner, S.E.4
Chervitz, S.A.5
Dagdigian, C.6
Fuellen, G.7
Gilbert, J.G.R.8
Korf, I.9
Lapp, H.10
-
34
-
-
84875404794
-
The UCSC Genome Browser database: Extensions and updates 2013
-
Meyer, L.R., Zweig, A.S., Hinrichs, A.S., Karolchik, D., Kuhn, R.M., Wong, M., Sloan, C.A., Rosenbloom, K.R., Roe, G., Rhead, B. et al. (2013) The UCSC Genome Browser database: extensions and updates 2013. Nucleic Acids Res., 41, D64-D69.
-
(2013)
Nucleic Acids Res.
, vol.41
-
-
Meyer, L.R.1
Zweig, A.S.2
Hinrichs, A.S.3
Karolchik, D.4
Kuhn, R.M.5
Wong, M.6
Sloan, C.A.7
Rosenbloom, K.R.8
Roe, G.9
Rhead, B.10
-
35
-
-
84876532610
-
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
-
-
-
36
-
-
84864407091
-
Structural diversity and African origin of the 17q21.31 inversion polymorphism
-
Steinberg, K.M., Antonacci, F., Sudmant, P.H., Kidd, J.M., Campbell, C.D., Vives, L., Malig, M., Scheinfeldt, L., Beggs, W., Ibrahim, M. et al. (2012) Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat. Genet., 44, 872-880.
-
(2012)
Nat. Genet.
, vol.44
, pp. 872-880
-
-
Steinberg, K.M.1
Antonacci, F.2
Sudmant, P.H.3
Kidd, J.M.4
Campbell, C.D.5
Vives, L.6
Malig, M.7
Scheinfeldt, L.8
Beggs, W.9
Ibrahim, M.10
|