-
1
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
DOI 10.1126/science.1098918
-
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004). Large-scale copy number polymorphism in the human genome. Science 305, 525-528. (Pubitemid 38971344)
-
(2004)
Science
, vol.305
, Issue.5683
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
2
-
-
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
-
3
-
-
29444450702
-
Common deletions and SNPs are in linkage disequilibrium in the human genome
-
Hinds, D.A., Kloek, A.P., Jen, M., Chen, X., and Frazer, K.A. (2006). Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat. Genet. 38, 82-85.
-
(2006)
Nat. Genet.
, vol.38
, pp. 82-85
-
-
Hinds, D.A.1
Kloek, A.P.2
Jen, M.3
Chen, X.4
Frazer, K.A.5
-
4
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
Conrad, D.F., Andrews, T.D., Carter, N.P., Hurles, M.E., and Pritchard, J.K. (2006). A high-resolution survey of deletion polymorphism in the human genome. Nat. Genet. 38, 75-81.
-
(2006)
Nat. Genet.
, vol.38
, pp. 75-81
-
-
Conrad, D.F.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
5
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
International HapMap Consortium
-
McCarroll, S.A., Hadnott, T.N., Perry, G.H., Sabeti, P.C., Zody, M.C., Barrett, J.C., Dallaire, S., Gabriel, S.B., Lee, C., Daly, M.J., and Altshuler, D.M.; International HapMap Consortium. (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
Hadnott, T.N.2
Perry, G.H.3
Sabeti, P.C.4
Zody, M.C.5
Barrett, J.C.6
Dallaire, S.7
Gabriel, S.B.8
Lee, C.9
Daly, M.J.10
Altshuler, D.M.11
-
6
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll, S.A., Kuruvilla, F.G., Korn, J.M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M.H., de Bakker, P.I., Maller, J.B., Kirby, A., 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
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
De Bakker, P.I.8
Maller, J.B.9
Kirby, A.10
-
7
-
-
52949093111
-
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
-
Cooper, G.M., Zerr, T., Kidd, J.M., Eichler, E.E., and Nickerson, D.A. (2008). Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat. Genet. 40, 1199-1203.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1199-1203
-
-
Cooper, G.M.1
Zerr, T.2
Kidd, J.M.3
Eichler, E.E.4
Nickerson, D.A.5
-
8
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
Itsara, A., Cooper, G.M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R.M., Myers, R.M., Ridker, P.M., Chasman, D.I., et al. (2009). Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 84, 148-161.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 148-161
-
-
Itsara, A.1
Cooper, G.M.2
Baker, C.3
Girirajan, S.4
Li, J.5
Absher, D.6
Krauss, R.M.7
Myers, R.M.8
Ridker, P.M.9
Chasman, D.I.10
-
9
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp, A.J., Locke, D.P., McGrath, S.D., Cheng, Z., Bailey, J.A., Vallente, R.U., Pertz, L.M., Clark, R.A., Schwartz, S., Segraves, R., 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
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
Pertz, L.M.7
Clark, R.A.8
Schwartz, S.9
Segraves, R.10
-
10
-
-
0037101840
-
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
-
Estivill, X., Cheung, J., Pujana, M.A., Nakabayashi, K., Scherer, S.W., and Tsui, L.C. (2002). Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Hum.Mol. Genet. 11, 1987-1995.
-
(2002)
Hum.Mol. Genet.
, vol.11
, pp. 1987-1995
-
-
Estivill, X.1
Cheung, J.2
Pujana, M.A.3
Nakabayashi, K.4
Scherer, S.W.5
Tsui, L.C.6
-
11
-
-
33746513094
-
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
-
Locke, D.P., Sharp, A.J., McCarroll, S.A., McGrath, S.D., Newman, T.L., Cheng, Z., Schwartz, S., Albertson, D.G., Pinkel, D., Altshuler, D.M., and Eichler, E.E. (2006). Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am. J. Hum. Genet. 79, 275-290.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 275-290
-
-
Locke, D.P.1
Sharp, A.J.2
McCarroll, S.A.3
McGrath, S.D.4
Newman, T.L.5
Cheng, Z.6
Schwartz, S.7
Albertson, D.G.8
Pinkel, D.9
Altshuler, D.M.10
Eichler, E.E.11
-
12
-
-
70349556543
-
Personalized copy number and segmental duplication maps using next-generation sequencing
-
Alkan, C., Kidd, J.M., Marques-Bonet, T., Aksay, G., Antonacci, F., Hormozdiari, F., Kitzman, J.O., Baker, C., Malig, M., Mutlu, O., et al. (2009). Personalized copy number and segmental duplication maps using next-generation sequencing. Nat. Genet. 41, 1061-1067.
-
(2009)
Nat. Genet.
, vol.41
, pp. 1061-1067
-
-
Alkan, C.1
Kidd, J.M.2
Marques-Bonet, T.3
Aksay, G.4
Antonacci, F.5
Hormozdiari, F.6
Kitzman, J.O.7
Baker, C.8
Malig, M.9
Mutlu, O.10
-
13
-
-
78049412267
-
Diversity of human copy number variation and multicopy genes
-
1000 Genomes Project
-
Sudmant, P.H., Kitzman, J.O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., and Eichler, E.E.; 1000 Genomes Project. (2010). Diversity of human copy number variation and multicopy genes. Science 330, 641-646.
-
(2010)
Science
, vol.330
, pp. 641-646
-
-
Sudmant, P.H.1
Kitzman, J.O.2
Antonacci, F.3
Alkan, C.4
Malig, M.5
Tsalenko, A.6
Sampas, N.7
Bruhn, L.8
Shendure, J.9
Eichler, E.E.10
-
14
-
-
77951719393
-
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
-
Park, H., Kim, J.I., Ju, Y.S., Gokcumen, O., Mills, R.E., Kim, S., Lee, S., Suh, D., Hong, D., Kang, H.P., et al. (2010). Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat. Genet. 42, 400-405.
-
(2010)
Nat. Genet.
, vol.42
, pp. 400-405
-
-
Park, H.1
Kim, J.I.2
Ju, Y.S.3
Gokcumen, O.4
Mills, R.E.5
Kim, S.6
Lee, S.7
Suh, D.8
Hong, D.9
Kang, H.P.10
-
15
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
DOI 10.1038/nature06862, PII NATURE06862
-
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 fromeight human genomes. Nature 453, 56-64. (Pubitemid 351630326)
-
(2008)
Nature
, vol.453
, Issue.7191
, 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
Haugen, E.11
Zerr, T.12
Yamada, N.A.13
Tsang, P.14
Newman, T.L.15
Tuzun, E.16
Cheng, Z.17
Ebling, H.M.18
Tusneem, N.19
David, R.20
Gillett, W.21
Phelps, K.A.22
Weaver, M.23
Saranga, D.24
Brand, A.25
Tao, W.26
Gustafson, E.27
McKernan, K.28
Chen, L.29
Malig, M.30
Smith, J.D.31
Korn, J.M.32
McCarroll, S.A.33
Altshuler, D.A.34
Peiffer, D.A.35
Dorschner, M.36
Stamatoyannopoulos, J.37
Schwartz, D.38
Nickerson, D.A.39
Mullikin, J.C.40
Wilson, R.K.41
Bruhn, L.42
Olson, M.V.43
Kaul, R.44
Smith, D.R.45
Eichler, E.E.46
more..
-
16
-
-
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
-
17
-
-
74049090046
-
Building the sequence map of the human pan-genome
-
Li, R., Li, Y., Zheng, H., Luo, R., Zhu, H., Li, Q., Qian, W., Ren, Y., Tian, G., Li, J., et al. (2010). Building the sequence map of the human pan-genome. Nat. Biotechnol. 28, 57-63.
-
(2010)
Nat. Biotechnol.
, vol.28
, pp. 57-63
-
-
Li, R.1
Li, Y.2
Zheng, H.3
Luo, R.4
Zhu, H.5
Li, Q.6
Qian, W.7
Ren, Y.8
Tian, G.9
Li, J.10
-
18
-
-
77952242983
-
Characterization of missing human genome sequences and copy-number polymorphic insertions
-
Kidd, J.M., Sampas, N., Antonacci, F., Graves, T., Fulton, R., Hayden, H.S., Alkan, C., Malig, M., Ventura, M., Giannuzzi, G., et al. (2010). Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Meth. 7, 365-371.
-
(2010)
Nat Meth.
, vol.7
, pp. 365-371
-
-
Kidd, J.M.1
Sampas, N.2
Antonacci, F.3
Graves, T.4
Fulton, R.5
Hayden, H.S.6
Alkan, C.7
Malig, M.8
Ventura, M.9
Giannuzzi, G.10
-
19
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Wellcome Trust Case Control Consortium
-
Conrad, D.F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T.D., Barnes, C., Campbell, P., et al; Wellcome Trust Case Control Consortium. (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
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
20
-
-
77950405093
-
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
-
Wellcome Trust Case Control Consortium
-
Craddock, N., Hurles, M.E., Cardin, N., Pearson, R.D., Plagnol, V., Robson, S., Vukcevic, D., Barnes, C., Conrad, D.F., Giannoulatou, E., et al; Wellcome Trust Case Control Consortium. (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
Robson, S.6
Vukcevic, D.7
Barnes, C.8
Conrad, D.F.9
Giannoulatou, E.10
-
21
-
-
72649089957
-
Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications
-
Schrider, D.R., and Hahn, M.W. (2010). Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications. Mol. Biol. Evol. 27, 103-111.
-
(2010)
Mol. Biol. Evol.
, vol.27
, pp. 103-111
-
-
Schrider, D.R.1
Hahn, M.W.2
-
22
-
-
35649018206
-
Recurrent DNA copy number variation in the laboratory mouse
-
Egan, C.M., Sridhar, S., Wigler, M., and Hall, I.M. (2007). Recurrent DNA copy number variation in the laboratory mouse. Nat. Genet. 39, 1384-1389.
-
(2007)
Nat. Genet
, vol.39
, pp. 1384-1389
-
-
Egan, C.M.1
Sridhar, S.2
Wigler, M.3
Hall, I.M.4
-
23
-
-
34347349069
-
Genomic rearrangements and sporadic disease
-
Lupski, J.R. (2007). Genomic rearrangements and sporadic disease. Nat. Genet. 39 (7, Suppl), S43-S47.
-
(2007)
Nat. Genet.
, vol.39
, Issue.7 SUPPL.
-
-
Lupski, J.R.1
-
24
-
-
37549018501
-
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
-
Turner, D.J., Miretti, M., Rajan, D., Fiegler, H., Carter, N.P., Blayney, M.L., Beck, S., and Hurles, M.E. (2008). Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat. Genet. 40, 90-95.
-
(2008)
Nat. Genet.
, vol.40
, pp. 90-95
-
-
Turner, D.J.1
Miretti, M.2
Rajan, D.3
Fiegler, H.4
Carter, N.P.5
Blayney, M.L.6
Beck, S.7
Hurles, M.E.8
-
25
-
-
34247623286
-
Population stratification of a common APOBEC gene deletion polymorphism
-
Kidd, J.M., Newman, T.L., Tuzun, E., Kaul, R., and Eichler, E.E. (2007). Population stratification of a common APOBEC gene deletion polymorphism. PLoS Genet. 3, e63.
-
(2007)
PLoS Genet.
, vol.3
-
-
Kidd, J.M.1
Newman, T.L.2
Tuzun, E.3
Kaul, R.4
Eichler, E.E.5
-
26
-
-
57149123783
-
Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis
-
Yang, T.L., Chen, X.D., Guo, Y., Lei, S.F., Wang, J.T., Zhou, Q., Pan, F., Chen, Y., Zhang, Z.X., Dong, S.S., et al. (2008). Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis. Am J Hum Genet. 83, 663-674..
-
(2008)
Am J Hum Genet.
, vol.83
, pp. 663-674
-
-
Yang, T.L.1
Chen, X.D.2
Guo, Y.3
Lei, S.F.4
Wang, J.T.5
Zhou, Q.6
Pan, F.7
Chen, Y.8
Zhang, Z.X.9
Dong, S.S.10
-
27
-
-
33751329250
-
Global variation in copy number in the human genome
-
DOI 10.1038/nature05329, PII NATURE05329
-
Redon, R., Ishikawa, S., Fitch, K.R., Feuk, L., Perry, G.H., Andrews, T.D., Fiegler, H., Shapero, M.H., Carson, A.R., Chen, W., et al. (2006). Global variation in copy number in the human genome. Nature 444, 444-454. (Pubitemid 44809057)
-
(2006)
Nature
, vol.444
, Issue.7118
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Zhang, J.33
Armengol, L.34
Conrad, D.F.35
Estivill, X.36
Tyler-Smith, C.37
Carter, N.P.38
Aburatani, H.39
Lee, C.40
Jones, K.W.41
Scherer, S.W.42
Hurles, M.E.43
more..
-
28
-
-
0037066430
-
A human genome diversity cell line panel [1]
-
Cann, H.M., de Toma, C., Cazes, L., Legrand, M.F., Morel, V., Piouffre, L., Bodmer, J., Bodmer, W.F., Bonne-Tamir, B., Cambon-Thomsen, A., et al. (2002). A human genome diversity cell line panel. Science 296, 261-262. (Pubitemid 34303653)
-
(2002)
Science
, vol.296
, Issue.5566
, pp. 261-262
-
-
Cann, H.M.1
De Toma, C.2
Cazes, L.3
Legrand, M.-F.4
Morel, V.5
Piouffre, L.6
Bodmer, J.7
Bodmer, W.F.8
Bonne-Tamir, B.9
Cambon-Thomsen, A.10
Chen, Z.11
Chu, J.12
Carcassi, C.13
Contu, L.14
Du, R.15
Excoffier, L.16
Ferrara, G.B.17
Friedlaender, J.S.18
Groot, H.19
Gurwitz, D.20
Jenkins, T.21
Herrera, R.J.22
Huang, X.23
Kidd, J.24
Kidd, K.K.25
Langaney, A.26
Lin, A.A.27
Mehdi, S.Q.28
Parham, P.29
Piazza, A.30
Pistillo, M.P.31
Qian, Y.32
Shu, Q.33
Xu, J.34
Zhu, S.35
Weber, J.L.36
Greely, H.T.37
Feldman, M.W.38
Thomas, G.39
Dausset, J.40
Cavalli-Sforza, L.L.41
more..
-
29
-
-
33749575795
-
Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives
-
Rosenberg, N.A. (2006). Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives. Ann. Hum. Genet. 70, 841-847.
-
(2006)
Ann. Hum. Genet.
, vol.70
, pp. 841-847
-
-
Rosenberg, N.A.1
-
30
-
-
77952242983
-
Characterization of missing human genome sequences and copy-number polymorphic insertions
-
Kidd, J.M., Sampas, N., Antonacci, F., Graves, T., Fulton, R., Hayden, H.S., Alkan, C., Malig, M., Ventura, M., Giannuzzi, G., et al. (2010). Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat. Methods 7, 365-371.
-
(2010)
Nat. Methods
, vol.7
, pp. 365-371
-
-
Kidd, J.M.1
Sampas, N.2
Antonacci, F.3
Graves, T.4
Fulton, R.5
Hayden, H.S.6
Alkan, C.7
Malig, M.8
Ventura, M.9
Giannuzzi, G.10
-
31
-
-
25844494223
-
Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH
-
DOI 10.1002/gcc.20243
-
Selzer, R.R., Richmond, T.A., Pofahl, N.J., Green, R.D., Eis, P.S., Nair, P., Brothman, A.R., and Stallings, R.L. (2005). Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 44, 305-319. (Pubitemid 41397100)
-
(2005)
Genes Chromosomes and Cancer
, vol.44
, Issue.3
, pp. 305-319
-
-
Selzer, R.R.1
Richmond, T.A.2
Pofahl, N.J.3
Green, R.D.4
Eis, P.S.5
Nair, P.6
Brothman, A.R.7
Stallings, R.L.8
-
32
-
-
0036081355
-
Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
-
Edgar, R., Domrachev, M., and Lash, A.E. (2002). Gene Expression Omnibus: NCBI gene expression and hybridization array data repository. Nucleic Acids Res. 30, 207-210. (Pubitemid 34679544)
-
(2002)
Nucleic Acids Research
, vol.30
, Issue.1
, pp. 207-210
-
-
Edgar, R.1
Domrachev, M.2
Lash, A.E.3
-
33
-
-
41149140876
-
The fine-scale and complex architecture of human copy-number variation
-
Perry, G.H., Ben-Dor, A., Tsalenko, A., Sampas, N., Rodriguez-Revenga, L., Tran, C.W., Scheffer, A., Steinfeld, I., Tsang, P., Yamada, N.A., et al. (2008). The fine-scale and complex architecture of human copy-number variation. Am. J. Hum. Genet. 82, 685-695.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 685-695
-
-
Perry, G.H.1
Ben-Dor, A.2
Tsalenko, A.3
Sampas, N.4
Rodriguez-Revenga, L.5
Tran, C.W.6
Scheffer, A.7
Steinfeld, I.8
Tsang, P.9
Yamada, N.A.10
-
34
-
-
0032728081
-
Clustering gene expression patterns
-
Ben-Dor, A., Shamir, R., and Yakhini, Z. (1999). Clustering gene expression patterns. J. Comput. Biol. 6, 281-297.
-
(1999)
J. Comput. Biol.
, vol.6
, pp. 281-297
-
-
Ben-Dor, A.1
Shamir, R.2
Yakhini, Z.3
-
35
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
DOI 10.1093/bioinformatics/bth457
-
Barrett, J.C., Fry, B., Maller, J., and Daly, M.J. (2005). Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265. (Pubitemid 40202029)
-
(2005)
Bioinformatics
, vol.21
, Issue.2
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
36
-
-
35348817330
-
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
-
Browning, S.R., and Browning, B.L. (2007). Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am. J. Hum. Genet. 81, 1084-1097.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 1084-1097
-
-
Browning, S.R.1
Browning, B.L.2
-
37
-
-
0021566877
-
Estimating F-statistics for the analysis of population structure
-
Weir, B.S., and Cockerham, C.C. (1984). Estimating F-statistics for the analysis of population structure. Evolution 38, 1358-1370. (Pubitemid 16277759)
-
(1984)
Evolution
, vol.38
, Issue.6
, pp. 1358-1370
-
-
Weir, B.S.1
Cockerham, C.C.2
-
39
-
-
62549090617
-
Human copy number polymorphic genes
-
Bailey, J.A., Kidd, J.M., and Eichler, E.E. (2008). Human copy number polymorphic genes. Cytogenet. Genome Res. 123, 234-243.
-
(2008)
Cytogenet. Genome Res.
, vol.123
, pp. 234-243
-
-
Bailey, J.A.1
Kidd, J.M.2
Eichler, E.E.3
-
40
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley, D.R., Balasubramanian, S., Swerdlow, H.P., Smith, G.P., Milton, J., Brown, C.G., Hall, K.P., Evers, D.J., Barnes, C.L., Bignell, H.R., et al. (2008). Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
Smith, G.P.4
Milton, J.5
Brown, C.G.6
Hall, K.P.7
Evers, D.J.8
Barnes, C.L.9
Bignell, H.R.10
-
41
-
-
78649264297
-
Denovorates andselection of large copy number variation
-
Itsara, A., Wu, H., Smith, J.D., Nickerson, D.A., Romieu, I., London, S.J., and Eichler, E.E. (2010).Denovorates andselection of large copy number variation. Genome Res. 20, 1469-1481.
-
(2010)
Genome Res.
, vol.20
, pp. 1469-1481
-
-
Itsara, A.1
Wu, H.2
Smith, J.D.3
Nickerson, D.A.4
Romieu, I.5
London, S.J.6
Eichler, E.E.7
-
42
-
-
55549101623
-
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
-
Ley, T.J., Mardis, E.R., Ding, L., Fulton, B., McLellan, M.D., Chen, K., Dooling, D., Dunford-Shore, B.H., McGrath, S., Hickenbotham, M., et al. (2008). DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456, 66-72.
-
(2008)
Nature
, vol.456
, pp. 66-72
-
-
Ley, T.J.1
Mardis, E.R.2
Ding, L.3
Fulton, B.4
McLellan, M.D.5
Chen, K.6
Dooling, D.7
Dunford-Shore, B.H.8
McGrath, S.9
Hickenbotham, M.10
-
43
-
-
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
-
44
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun, E., Sharp, A.J., Bailey, J.A., Kaul, R., Morrison, V.A., Pertz, L.M., Haugen, E., Hayden, H., Albertson, D., Pinkel, D., 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
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
-
45
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
International HapMap Consortium
-
Frazer, K.A., Ballinger, D.G., Cox, D.R., Hinds, D.A., Stuve, L.L., Gibbs, R.A., Belmont, J.W., Boudreau, A., Hardenbol, P., Leal, S.M., et al; International HapMap Consortium. (2007). A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
Gibbs, R.A.6
Belmont, J.W.7
Boudreau, A.8
Hardenbol, P.9
Leal, S.M.10
-
46
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
The 1000 Genomes Project Consortium
-
The 1000 Genomes Project Consortium. (2010). A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
47
-
-
0037047628
-
Recent segmental duplications in the human genome
-
DOI 10.1126/science.1072047
-
Bailey, J.A., Gu, Z., Clark, R.A., Reinert, K., Samonte, R.V., Schwartz, S., Adams, M.D., Myers, E.W., Li, P.W., and Eichler, E.E. (2002). Recent segmental duplications in the human genome. Science 297, 1003-1007. (Pubitemid 34856032)
-
(2002)
Science
, vol.297
, Issue.5583
, pp. 1003-1007
-
-
Bailey, J.A.1
Gu, Z.2
Clark, R.A.3
Reinert, K.4
Samonte, R.V.5
Schwartz, S.6
Adams, M.D.7
Myers, E.W.8
Li, P.W.9
Eichler, E.E.10
-
48
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
DOI 10.1126/science.1101160
-
Gonzalez, E., Kulkarni, H., Bolivar, H., Mangano, A., Sanchez, R., Catano, G., Nibbs, R.J., Freedman, B.I., Quinones, M.P., Bamshad, M.J., et al. (2005). The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307, 1434-1440. (Pubitemid 40321934)
-
(2005)
Science
, vol.307
, Issue.5714
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
Catano, G.6
Nibbs, R.J.7
Freedman, B.I.8
Quinones, M.P.9
Bamshad, M.J.10
Murthy, K.K.11
Rovin, B.H.12
Bradley, W.13
Clark, R.A.14
Anderson, S.A.15
O'Connell, R.J.16
Agan, B.K.17
Ahuja, S.S.18
Bologna, R.19
Sen, L.20
Dolan, M.J.21
Ahuja, S.K.22
more..
-
49
-
-
78149355561
-
Bitter taste receptors on airway smooth muscle bronchodilate by localized calcium signaling and reverse obstruction
-
Deshpande, D.A., Wang, W.C., McIlmoyle, E.L., Robinett, K.S., Schillinger, R.M., An, S.S., Sham, J.S., and Liggett, S.B. (2010). Bitter taste receptors on airway smooth muscle bronchodilate by localized calcium signaling and reverse obstruction. Nat. Med. 16, 1299-1304.
-
(2010)
Nat. Med.
, vol.16
, pp. 1299-1304
-
-
Deshpande, D.A.1
Wang, W.C.2
McIlmoyle, E.L.3
Robinett, K.S.4
Schillinger, R.M.5
An, S.S.6
Sham, J.S.7
Liggett, S.B.8
-
50
-
-
69549084858
-
Motile cilia of human airway epithelia are chemosensory
-
Shah, A.S., Ben-Shahar, Y., Moninger, T.O., Kline, J.N., and Welsh, M.J. (2009). Motile cilia of human airway epithelia are chemosensory. Science 325, 1131-1134.
-
(2009)
Science
, vol.325
, pp. 1131-1134
-
-
Shah, A.S.1
Ben-Shahar, Y.2
Moninger, T.O.3
Kline, J.N.4
Welsh, M.J.5
-
51
-
-
60149090028
-
Human occludin is a hepatitis C virus entry factor required for infection of mouse cells
-
Ploss, A., Evans, M.J., Gaysinskaya, V.A., Panis, M., You, H., de Jong, Y.P., and Rice, C.M. (2009). Human occludin is a hepatitis C virus entry factor required for infection of mouse cells. Nature 457, 882-886.
-
(2009)
Nature
, vol.457
, pp. 882-886
-
-
Ploss, A.1
Evans, M.J.2
Gaysinskaya, V.A.3
Panis, M.4
You, H.5
De Jong, Y.P.6
Rice, C.M.7
-
52
-
-
34547730931
-
Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk
-
DOI 10.1093/carcin/bgm033
-
Frank, B., Bermejo, J.L., Hemminki, K., Sutter, C., Wappenschmidt, B., Meindl, A., Kiechle-Bahat, M., Bugert, P., Schmutzler, R.K., Bartram, C.R., and Burwinkel, B. (2007). Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk. Carcinogenesis 28, 1442-1445. (Pubitemid 47241793)
-
(2007)
Carcinogenesis
, vol.28
, Issue.7
, pp. 1442-1445
-
-
Frank, B.1
Bermejo, J.L.2
Hemminki, K.3
Sutter, C.4
Wappenschmidt, B.5
Meindl, A.6
Kiechle-Bahat, M.7
Bugert, P.8
Schmutzler, R.K.9
Bartram, C.R.10
Burwinkel, B.11
-
53
-
-
37549033125
-
Psoriasis is associated with increased beta-defensin genomic copy number
-
Hollox, E.J., Huffmeier, U., Zeeuwen, P.L., Palla, R., Lascorz, J., Rodijk-Olthuis, D., van de Kerkhof, P.C., Traupe, H., de Jongh, G., den Heijer, M., et al. (2008). Psoriasis is associated with increased beta-defensin genomic copy number. Nat. Genet. 40, 23-25.
-
(2008)
Nat. Genet.
, vol.40
, pp. 23-25
-
-
Hollox, E.J.1
Huffmeier, U.2
Zeeuwen, P.L.3
Palla, R.4
Lascorz, J.5
Rodijk-Olthuis, D.6
Van De Kerkhof, P.C.7
Traupe, H.8
De Jongh, G.9
Den Heijer, M.10
-
54
-
-
34249815834
-
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
-
Fanciulli, M., Norsworthy, P.J., Petretto, E., Dong, R., Harper, L., Kamesh, L., Heward, J.M., Gough, S.C., de Smith, A., Blakemore, A.I., et al. (2007). FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat. Genet. 39, 721-723.
-
(2007)
Nat. Genet.
, vol.39
, pp. 721-723
-
-
Fanciulli, M.1
Norsworthy, P.J.2
Petretto, E.3
Dong, R.4
Harper, L.5
Kamesh, L.6
Heward, J.M.7
Gough, S.C.8
De Smith, A.9
Blakemore, A.I.10
-
55
-
-
67651098662
-
Mechanisms of change in gene copy number
-
Hastings, P.J., Lupski, J.R., Rosenberg, S.M., and Ira, G. (2009). Mechanisms of change in gene copy number. Nat. Rev. Genet. 10, 551-564.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 551-564
-
-
Hastings, P.J.1
Lupski, J.R.2
Rosenberg, S.M.3
Ira, G.4
-
56
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
DOI 10.1016/S0168-9525(02)02592-1, PII S0168952501025926
-
Stankiewicz, P., and Lupski, J.R. (2002). Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74-82. (Pubitemid 34127806)
-
(2002)
Trends in Genetics
, vol.18
, Issue.2
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
57
-
-
78651304279
-
Whole-genome molecular haplotyping of single cells
-
Fan, H.C., Wang, J., Potanina, A., and Quake, S.R. (2011). Whole-genome molecular haplotyping of single cells. Nat. Biotechnol. 29, 51-57.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 51-57
-
-
Fan, H.C.1
Wang, J.2
Potanina, A.3
Quake, S.R.4
-
58
-
-
78651333227
-
Haplotype-resolved genome sequencing of a Gujarati Indian individual
-
Kitzman, J.O., Mackenzie, A.P., Adey, A., Hiatt, J.B., Patwardhan, R.P., Sudmant, P.H., Ng, S.B., Alkan, C., Qiu, R., Eichler, E.E., and Shendure, J. (2011). Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat. Biotechnol. 29, 59-63.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 59-63
-
-
Kitzman, J.O.1
Mackenzie, A.P.2
Adey, A.3
Hiatt, J.B.4
Patwardhan, R.P.5
Sudmant, P.H.6
Ng, S.B.7
Alkan, C.8
Qiu, R.9
Eichler, E.E.10
Shendure, J.11
|