-
2
-
-
84856278409
-
The challenges of studying complex and dynamic regions of the human genome
-
E.J. Hollox, The challenges of studying complex and dynamic regions of the human genome, Methods Mol. Biol. 838 (2012) 187-207.
-
(2012)
Methods Mol. Biol.
, vol.838
, pp. 187-207
-
-
Hollox, E.J.1
-
3
-
-
84864407091
-
Structural diversity and African origin of the 17q21.31 inversion polymorphism
-
K.M. Steinberg, F. Antonacci, P.H. Sudmant, J.M. Kidd, C.D. Campbell, L. Vives, M. Malig, L. Scheinfeldt, W. Beggs, M. Ibrahim, G. Lema, T.B. Nyambo, S.A. Omar, J.-M. Bodo, A. Froment, M.P. Donnelly, K.K. Kidd, S.A. Tishkoff, E.E. Eichler, Structural diversity and African origin of the 17q21.31 inversion polymorphism, Nat. Genet. 44 (2012) 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
Lema, G.11
Nyambo, T.B.12
Omar, S.A.13
Bodo, J.-M.14
Froment, A.15
Donnelly, M.P.16
Kidd, K.K.17
Tishkoff, S.A.18
Eichler, E.E.19
-
4
-
-
84860860685
-
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication
-
M.Y. Dennis, X. Nuttle, P.H. Sudmant, F. Antonacci, T.A. Graves, M. Nefedov, J.A. Rosenfeld, S. Sajjadian, M. Malig, H. Kotkiewicz, C.J. Curry, S. Shafer, L.G. Shaffer, P.J. de Jong, R.K. Wilson, E.E. Eichler, Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication, Cell 149 (2012) 912-922.
-
(2012)
Cell
, vol.149
, pp. 912-922
-
-
Dennis, M.Y.1
Nuttle, X.2
Sudmant, P.H.3
Antonacci, F.4
Graves, T.A.5
Nefedov, M.6
Rosenfeld, J.A.7
Sajjadian, S.8
Malig, M.9
Kotkiewicz, H.10
Curry, C.J.11
Shafer, S.12
Shaffer, L.G.13
de Jong, P.J.14
Wilson, R.K.15
Eichler, E.E.16
-
5
-
-
76349116970
-
Beta-defensins and Crohn's disease: confusion from counting copies
-
E.J. Hollox, Beta-defensins and Crohn's disease: confusion from counting copies, Am. J. Gastroenterol. 105 (2010) 360-362.
-
(2010)
Am. J. Gastroenterol.
, vol.105
, pp. 360-362
-
-
Hollox, E.J.1
-
6
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
D.F. Conrad, D. Pinto, R. Redon, L. Feuk, O. Gokcumen, Y.J. Zhang, J. Aerts, T.D. Andrews, C. Barnes, P. Campbell, T. Fitzgerald, M. Hu, C.H. Ihm, K. Kristiansson, D.G. MacArthur, J.R. MacDonald, I. Onyiah, A.W.C. Pang, S. Robson, K. Stirrups, A. Valsesia, K. Walter, J. Wei, C. Tyler-Smith, N.P. Carter, C. Lee, S.W. Scherer, M.E. Hurles, Origins and functional impact of copy number variation in the human genome, Nature 464 (2010) 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.J.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
Fitzgerald, T.11
Hu, M.12
Ihm, C.H.13
Kristiansson, K.14
MacArthur, D.G.15
MacDonald, J.R.16
Onyiah, I.17
Pang, A.W.C.18
Robson, S.19
Stirrups, K.20
Valsesia, A.21
Walter, K.22
Wei, J.23
Tyler-Smith, C.24
Carter, N.P.25
Lee, C.26
Scherer, S.W.27
Hurles, M.E.28
more..
-
7
-
-
78649479154
-
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease
-
M.C. Aldhous, S. Abu Bakar, N.J. Prescott, R. Palla, K. Soo, J.C. Mansfield, C.G. Mathew, J. Satsangi, J.A.L. Armour, Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease, Hum. Mol. Genet. 19 (2010) 4930-4938.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4930-4938
-
-
Aldhous, M.C.1
Abu Bakar, S.2
Prescott, N.J.3
Palla, R.4
Soo, K.5
Mansfield, J.C.6
Mathew, C.G.7
Satsangi, J.8
Armour, J.A.L.9
-
8
-
-
79952474641
-
Population-genetic properties of differentiated human copy-number polymorphisms
-
C.D. Campbell, N. Sampas, A. Tsalenko, P.H. Sudmant, J.M. Kidd, M. Malig, T.H. Vu, L. Vives, P. Tsang, L. Bruhn, E.E. Eichler, Population-genetic properties of differentiated human copy-number polymorphisms, Am. J. Hum. Genet. 88 (2011) 317-332.
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 317-332
-
-
Campbell, C.D.1
Sampas, N.2
Tsalenko, A.3
Sudmant, P.H.4
Kidd, J.M.5
Malig, M.6
Vu, T.H.7
Vives, L.8
Tsang, P.9
Bruhn, L.10
Eichler, E.E.11
-
9
-
-
78049412267
-
Diversity of human copy number variation and multicopy genes
-
P.H. Sudmant, J.O. Kitzman, F. Antonacci, C. Alkan, M. Malig, A. Tsalenko, N. Sampas, L. Bruhn, J. Shendure, P. Genomes, E.E. Eichler, Diversity of human copy number variation and multicopy genes, Science 330 (2010) 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
Genomes, P.10
Eichler, E.E.11
-
10
-
-
84871618643
-
Correlatingmultiallelic copy number polymorphismswith disease susceptibility
-
(Jul 26 2012)
-
S. Cantsilieris, S.J.White, Correlatingmultiallelic copy number polymorphismswith disease susceptibility, Hum. Mutat. (Jul 26 2012), http://dx.doi.org/10.1002/humu.22172.
-
Hum. Mutat
-
-
Cantsilieris, S.1
White, S.J.2
-
11
-
-
0027179475
-
High resolution visual mapping of stretched DNA by fiuorescent hybridization
-
I. Parra, B. Windle, High resolution visual mapping of stretched DNA by fiuorescent hybridization, Nat. Genet. 5 (1993) 17-21.
-
(1993)
Nat. Genet.
, vol.5
, pp. 17-21
-
-
Parra, I.1
Windle, B.2
-
12
-
-
0036363324
-
Multicolor fiber FISH
-
J. Kraan, A.R.M. Bergh, K. Kleiverda, J.-W. Vaandrager, E.S. Jordanova, A.K. Raap, P.M. Kluin,E.Schuuring,Y.-S.Fan,Multicolor fiber FISH, Methods Mol. Biol. 204 (2003) 143-153.
-
(2003)
Methods Mol. Biol.
, vol.204
, pp. 143-153
-
-
Kraan, J.1
Bergh, A.R.M.2
Kleiverda, K.3
Vaandrager, J.-W.4
Jordanova, E.S.5
Raap, A.K.6
Kluin, P.M.7
Schuuring, E.8
Fan, Y.-S.9
-
13
-
-
34748895999
-
Diet and the evolution of human amylase gene copy number variation
-
G.H. Perry, N.J. Dominy, K.G. Claw, A.S. Lee, H. Fiegler, R. Redon, J. Werner, F.A. Villanea, J.L. Mountain, R. Misra, N.P. Carter, C. Lee, A.C. Stone, Diet and the evolution of human amylase gene copy number variation, Nat. Genet. 39 (2007) 1256-1260.
-
(2007)
Nat. Genet.
, vol.39
, pp. 1256-1260
-
-
Perry, G.H.1
Dominy, N.J.2
Claw, K.G.3
Lee, A.S.4
Fiegler, H.5
Redon, R.6
Werner, J.7
Villanea, F.A.8
Mountain, J.L.9
Misra, R.10
Carter, N.P.11
Lee, C.12
Stone, A.C.13
-
14
-
-
79952118422
-
Mutation detection by Southern Blotting
-
G. Mellars, K. Gomez, Mutation detection by Southern Blotting, Methods Mol. Biol. 688 (2011) 281-291.
-
(2011)
Methods Mol. Biol.
, vol.688
, pp. 281-291
-
-
Mellars, G.1
Gomez, K.2
-
15
-
-
84871618027
-
Application of pulsed-field gel electrophoresis to genetic diagnosis
-
J.T. den Dunnen, G.-J.B. Ommen, C.G. Mathew, Application of pulsed-field gel electrophoresis to genetic diagnosis, Methods Mol. Biol. 9 (1992) 313-325.
-
(1992)
Methods Mol. Biol.
, vol.9
, pp. 313-325
-
-
den Dunnen, J.T.1
Ommen, G.-J.2
Mathew, C.G.3
-
16
-
-
32844460938
-
Copy number polymorphismin Fcgr3 predisposes to glomerulonephritis in rats and humans
-
T.J. Aitman, R. Dong, T.J. Vyse, P.J. Norsworthy, M.D. Johnson, J. Smith, J. Mangion, C. Roberton-Lowe, A.J. Marshall, E. Petretto, M.D. Hodges, G. Bhangal, S.G. Patel, K. Sheehan-Rooney, M. Duda, P.R. Cook, D.J. Evans, J. Domin, J. Flint, J.J. Boyle, C.D. Pusey,H.T. Cook, Copy number polymorphismin Fcgr3 predisposes to glomerulonephritis in rats and humans, Nature 439 (2006) 851-855.
-
(2006)
Nature
, vol.439
, pp. 851-855
-
-
Aitman, T.J.1
Dong, R.2
Vyse, T.J.3
Norsworthy, P.J.4
Johnson, M.D.5
Smith, J.6
Mangion, J.7
Roberton-Lowe, C.8
Marshall, A.J.9
Petretto, E.10
Hodges, M.D.11
Bhangal, G.12
Patel, S.G.13
Sheehan-Rooney, K.14
Duda, M.15
Cook, P.R.16
Evans, D.J.17
Domin, J.18
Flint, J.19
Boyle, J.J.20
Pusey, C.D.21
Cook, H.T.22
more..
-
19
-
-
61649092570
-
An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus
-
E.J. Hollox, J.-C. Detering, T. Dehnugara, An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus, Hum. Mutat. 30 (2009) 477-484.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 477-484
-
-
Hollox, E.J.1
Detering, J.-C.2
Dehnugara, T.3
-
20
-
-
26444577882
-
Copy number polymorphism and expression level variation of the human beta-defensin genes DEFA1 and DEFA3
-
P.M.R. Aldred, E.J. Hollox, J.A.L. Armour, Copy number polymorphism and expression level variation of the human beta-defensin genes DEFA1 and DEFA3, Hum. Mol. Genet. 14 (2005) 2045-2052.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2045-2052
-
-
Aldred, P.M.R.1
Hollox, E.J.2
Armour, J.A.L.3
-
21
-
-
15744381713
-
Kinetic PCR analysis: real time monitoring of DNA amplification reactions
-
R. Hiquchi, C. Fockler, G. Dollinger, R. Watson, Kinetic PCR analysis: real time monitoring of DNA amplification reactions, Biotechnology 11 (1993) 1026-1030.
-
(1993)
Biotechnology
, vol.11
, pp. 1026-1030
-
-
Hiquchi, R.1
Fockler, C.2
Dollinger, G.3
Watson, R.4
-
22
-
-
44949231424
-
Analyzing real-time PCR data by the comparative Ct method
-
T. Schmittgen, K. Livak, Analyzing real-time PCR data by the comparative Ct method, Nat. Protoc. 3 (2008) 1101.
-
(2008)
Nat. Protoc.
, vol.3
, pp. 1101
-
-
Schmittgen, T.1
Livak, K.2
-
23
-
-
34247217272
-
Real-time quantitative PCR as an alternative to Southern Blot or fiuorescence insitu hybridization for detection of gene copy number changes
-
J. Hoebeeck, F. Speleman, J. Vandesompele, E. Hilario, J. Mackay, Real-time quantitative PCR as an alternative to Southern Blot or fiuorescence insitu hybridization for detection of gene copy number changes, Methods Mol. Biol. 353 (2007) 205-226.
-
(2007)
Methods Mol. Biol.
, vol.353
, pp. 205-226
-
-
Hoebeeck, J.1
Speleman, F.2
Vandesompele, J.3
Hilario, E.4
Mackay, J.5
-
24
-
-
20044377204
-
The infiuence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
E. Gonzalez, H. Kulkarni, H. Bolivar, A. Mangano, R. Sanchez, G. Catano, R.J. Nibbs, B.I. Freedman, M.P. Quinones, M.J. Bamshad, The infiuence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility, Science 307 (2005) 1434-1440.
-
(2005)
Science
, vol.307
, 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
-
25
-
-
79952048505
-
Determination of beta-defensin genomic copy number in different populations: a comparison of three methods
-
P. Fode, C. Jespersgaard, R.J. Hardwick, H. Bogle, M. Theisen, D. Dodoo, M. Lenicek, L. Vitek, A. Vieira, J. Freitas, P.S. Andersen, E.J. Hollox, Determination of beta-defensin genomic copy number in different populations: a comparison of three methods, PLoS One 6 (2011) e16768.
-
(2011)
PLoS One
, vol.6
-
-
Fode, P.1
Jespersgaard, C.2
Hardwick, R.J.3
Bogle, H.4
Theisen, M.5
Dodoo, D.6
Lenicek, M.7
Vitek, L.8
Vieira, A.9
Freitas, J.10
Andersen, P.S.11
Hollox, E.J.12
-
26
-
-
77953363607
-
Comparison of multiplex ligation-dependant probe amplification and real time PCR accuracy for gene copy number quantification using the beta defensin locus
-
A. Perne, X. Zhang, L. Lehmann, M. Groth, F. Stuber, M. Book, Comparison of multiplex ligation-dependant probe amplification and real time PCR accuracy for gene copy number quantification using the beta defensin locus, Biotechniques 47 (2009) 1023-1028.
-
(2009)
Biotechniques
, vol.47
, pp. 1023-1028
-
-
Perne, A.1
Zhang, X.2
Lehmann, L.3
Groth, M.4
Stuber, F.5
Book, M.6
-
27
-
-
0034650292
-
Measurement of locus copy number by hybridisation with amplifiable probes
-
J.A.L. Armour, C. Sismani, P.C. Patsalis, G. Cross, Measurement of locus copy number by hybridisation with amplifiable probes, Nucleic Acids Res. 28 (2000) 605-609.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 605-609
-
-
Armour, J.A.L.1
Sismani, C.2
Patsalis, P.C.3
Cross, G.4
-
28
-
-
44649092893
-
MLPA and MAPH: sensitive detection of deletions and duplications, in: Curr Protoc Hum GenetJohn Wiley & Sons
-
J.T. den Dunnen, S.J.White, MLPA and MAPH: sensitive detection of deletions and duplications, in: Curr Protoc Hum GenetJohn Wiley & Sons, Inc., 2006
-
(2006)
Inc
-
-
den Dunnen, J.T.1
White, S.J.2
-
29
-
-
0042387792
-
Extensive normal copy number variation of a beta-defensin antimicrobialgene cluster
-
E.J. Hollox, J.A.L. Armour, J.C.K. Barber, Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster, Am. J. Hum. Genet. 73 (2003) 591-600.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 591-600
-
-
Hollox, E.J.1
Armour, J.A.L.2
Barber, J.C.K.3
-
30
-
-
29244466531
-
Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis
-
E. Hollox, J. Davies, U. Griesenbach, J. Burgess, E. Alton, J. Armour, Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis, J. Negat. Results Biomed. 4 (2005) 9.
-
(2005)
J. Negat. Results Biomed.
, vol.4
, pp. 9
-
-
Hollox, E.1
Davies, J.2
Griesenbach, U.3
Burgess, J.4
Alton, E.5
Armour, J.6
-
31
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
J.P. Schouten, C.J. McElgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens, G. Pals, Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification, Nucleic Acids Res. 30 (2002) 1-13.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 1-13
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
33
-
-
34848917014
-
Variation of CNV distribution in five different ethnic populations
-
S. White, L. Vissers, A. Geurts Van Kessel, R. De Menezes, E. Kalay, A. Lehesjoki, P. Giordano, E. Van De Vosse, M. Breuning, H. Brunner, J. Den Dunnen, J. Veltman, Variation of CNV distribution in five different ethnic populations, Cytogenet. Ge-nome Res. 118 (2007) 19.
-
(2007)
Cytogenet. Ge-nome Res.
, vol.118
, pp. 19
-
-
White, S.1
Vissers, L.2
Geurts Van Kessel, A.3
De Menezes, R.4
Kalay, E.5
Lehesjoki, A.6
Giordano, P.7
Van De Vosse, E.8
Breuning, M.9
Brunner, H.10
Den Dunnen, J.11
Veltman, J.12
-
34
-
-
78049285346
-
Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis
-
R.B. Marques, M.M. Thabet, S.J. White, J.J. Houwing-Duistermaat, A.M. Bakker, G.J. Hendriks, A. Zhernakova, T.W. Huizinga, A.H. van der Helm-van Mil, R.E. Toes, Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis, PLoS One 5 (2010) e13173.
-
(2010)
PLoS One
, vol.5
-
-
Marques, R.B.1
Thabet, M.M.2
White, S.J.3
Houwing-Duistermaat, J.J.4
Bakker, A.M.5
Hendriks, G.J.6
Zhernakova, A.7
Huizinga, T.W.8
van der Helm-van Mil, A.H.9
Toes, R.E.10
-
35
-
-
47949093301
-
High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes
-
M. Groth, K. Szafranski, S. Taudien, K. Huse, O. Mueller, P. Rosenstiel, A.O.H. Nygren, S. Schreiber, G. Birkenmeier, M. Platzer, High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes, Hum. Mutat. 29 (2008) 1247-1254.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1247-1254
-
-
Groth, M.1
Szafranski, K.2
Taudien, S.3
Huse, K.4
Mueller, O.5
Rosenstiel, P.6
Nygren, A.O.H.7
Schreiber, S.8
Birkenmeier, G.9
Platzer, M.10
-
36
-
-
33847390726
-
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
-
J.A. Armour, R. Palla, P. Zeeuwen,M. den Heijer, J. Schalkwijk, E.J. Hollox, Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats, Nucleic Acids Res. 35 (2007) e19.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Armour, J.A.1
Palla, R.2
Zeeuwen, P.3
den Heijer, M.4
Schalkwijk, J.5
Hollox, E.J.6
-
37
-
-
80051788075
-
Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders
-
D. Carpenter, S. Walker, N. Prescott, J. Schalkwijk, J. Armour, Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders, BMC Genomics 12 (2011) 418.
-
(2011)
BMC Genomics
, vol.12
, pp. 418
-
-
Carpenter, D.1
Walker, S.2
Prescott, N.3
Schalkwijk, J.4
Armour, J.5
-
38
-
-
77954109371
-
Assessment of complement C4 gene copy number using the paralog ratio test
-
M.M.A. Fernando, L. Boteva, D.L. Morris, B. Zhou, Y.L. Wu, M.-L. Lokki, C.Y. Yu, J.D. Rioux, E.J. Hollox, T.J. Vyse, Assessment of complement C4 gene copy number using the paralog ratio test, Hum. Mutat. 31 (2010) 866-874.
-
(2010)
Hum. Mutat.
, vol.31
, pp. 866-874
-
-
Fernando, M.M.A.1
Boteva, L.2
Morris, D.L.3
Zhou, B.4
Wu, Y.L.5
Lokki, M.-L.6
Yu, C.Y.7
Rioux, J.D.8
Hollox, E.J.9
Vyse, T.J.10
-
39
-
-
34347339520
-
Methods and strategies for analyzing copy number variation using DNA microarrays
-
N.P. Carter, Methods and strategies for analyzing copy number variation using DNA microarrays, Nat. Genet. 39 (7 Suppl) (2007) S16-S21.
-
(2007)
Nat. Genet. 39 (7 Suppl)
-
-
Carter, N.P.1
-
40
-
-
33751329250
-
Global variation in copy number in the human genome
-
R. Redon, S. Ishikawa, K.R. Fitch, L. Feuk, G.H. Perry, T.D. Andrews, H. Fiegler, M.H. Shapero, A.R. Carson, W. Chen, Global variation in copy number in the human genome, Nature 444 (2006) 444-454.
-
(2006)
Nature
, vol.444
, 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
-
41
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
S.A. McCarroll, F.G. Kuruvilla, J.M. Korn, S. Cawley, J. Nemesh, A. Wysoker, M.H. Shapero, P.I.W. de Bakker, J.B. Maller, A. Kirby, A.L. Elliott, M. Parkin, E. Hubbell, T. Webster, R. Mei, J. Veitch, P.J. Collins, R. Handsaker, S. Lincoln, M. Nizzari, J. Blume, K.W. Jones, R. Rava, M.J. Daly, S.B. Gabriel, D. Altshuler, Integrated detection and population-genetic analysis of SNPs and copy number variation, Nat. Genet. 40 (2008) 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.W.8
Maller, J.B.9
Kirby, A.10
Elliott, A.L.11
Parkin, M.12
Hubbell, E.13
Webster, T.14
Mei, R.15
Veitch, J.16
Collins, P.J.17
Handsaker, R.18
Lincoln, S.19
Nizzari, M.20
Blume, J.21
Jones, K.W.22
Rava, R.23
Daly, M.J.24
Gabriel, S.B.25
Altshuler, D.26
more..
-
42
-
-
52949093111
-
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
-
G.M. Cooper, T. Zerr, J.M. Kidd, E.E. Eichler, D.A. Nickerson, Systematic assessment of copy number variant detection via genome-wide SNP genotyping, Nat. Genet. 40 (2008) 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
-
43
-
-
80054721188
-
Detection of copy number variation using SNP genotyping
-
G.M. Cooper, H. Mefford, Detection of copy number variation using SNP genotyping, Methods Mol. Biol. 767 (2011) 243-252.
-
(2011)
Methods Mol. Biol.
, vol.767
, pp. 243-252
-
-
Cooper, G.M.1
Mefford, H.2
-
44
-
-
79958162661
-
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
-
D. Pinto, K. Darvishi, X. Shi, D. Rajan, D. Rigler, T. Fitzgerald, A.C. Lionel, B. Thiruvahindrapuram, J.R. MacDonald, R. Mills, A. Prasad, K. Noonan, S. Gribble, E. Prigmore, P.K. Donahoe, R.S. Smith, J.H. Park, M.E. Hurles, N.P. Carter, C. Lee, S.W. Scherer, L. Feuk, Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants, Nat. Biotechnol. 29 (2011) 512-520.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 512-520
-
-
Pinto, D.1
Darvishi, K.2
Shi, X.3
Rajan, D.4
Rigler, D.5
Fitzgerald, T.6
Lionel, A.C.7
Thiruvahindrapuram, B.8
MacDonald, J.R.9
Mills, R.10
Prasad, A.11
Noonan, K.12
Gribble, S.13
Prigmore, E.14
Donahoe, P.K.15
Smith, R.S.16
Park, J.H.17
Hurles, M.E.18
Carter, N.P.19
Lee, C.20
Scherer, S.W.21
Feuk, L.22
more..
-
45
-
-
84870836757
-
The Wellcome Trust Case Control Consortium, genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
-
"The Wellcome Trust Case Control Consortium", genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls, Nature 464 (2010) 713-720
-
(2010)
Nature
, vol.464
, pp. 713-720
-
-
-
46
-
-
77953974065
-
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
-
A.E. Dellinger, S.-M. Saw, L.K. Goh, M. Seielstad, T.L. Young, Y.-J. Li, Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays, Nucleic Acids Res. 38 (2010) e105.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Dellinger, A.E.1
Saw, S.-M.2
Goh, L.K.3
Seielstad, M.4
Young, T.L.5
Li, Y.-J.6
-
47
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
C. Alkan, B.P. Coe, E.E. Eichler, Genome structural variation discovery and genotyping, Nat. Rev. Genet. 12 (2011) 363-376.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 363-376
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
48
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
J.M. Kidd, G.M. Cooper, W.F. Donahue, H.S. Hayden, N. Sampas, T. Graves, N. Hansen, B. Teague, C. Alkan, F. Antonacci, E. Haugen, T. Zerr, N.A. Yamada, P. Tsang, T.L. Newman, E. Tuzun, Z. Cheng, H.M. Ebling, N. Tusneem, R. David, W. Gillett, K.A. Phelps, M. Weaver, D. Saranga, A. Brand, W. Tao, E. Gustafson, K. McKernan, L. Chen, M. Malig, J.D. Smith, J.M. Korn, S.A. McCarroll, D.A. Altshuler, D.A. Peiffer, M. Dorschner, J. Stamatoyannopoulos, D. Schwartz, D.A. Nickerson, J.C. Mullikin, R.K. Wilson, L. Bruhn, M.V. Olson, R. Kaul, D.R. Smith, E.E. Eichler, Mapping and sequencing of structural variation from eight human genomes, Nature 453 (2008) 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
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..
-
49
-
-
70449704529
-
Computational methods for discovering structural variation with next-generation sequencing
-
P. Medvedev, M. Stanciu,M. Brudno, Computational methods for discovering structural variation with next-generation sequencing, Nat. Methods 6 (2009) S13-S20.
-
(2009)
Nat. Methods
, vol.6
-
-
Medvedev, P.1
Stanciu, M.2
Brudno, M.3
-
50
-
-
84864609288
-
N.NHLBI Exome Sequencing Project, A.R. Quinlan, D.A. Nickerson, E.E. Eichler, Copy number variation detection and genotyping from exome sequence data
-
N. Krumm, P.H. Sudmant, A. Ko, B.J. O'Roak, M. Malig, B.P. Coe, N. NHLBI Exome Sequencing Project, A.R. Quinlan, D.A. Nickerson, E.E. Eichler, Copy number variation detection and genotyping from exome sequence data, Genome Res. 22 (2012) 1525-1532.
-
(2012)
Genome Res
, vol.22
, pp. 1525-1532
-
-
Krumm, N.1
Sudmant, P.H.2
Ko, A.3
O'Roak, B.J.4
Malig, M.5
Coe, B.P.6
-
51
-
-
74049090046
-
Building the sequence map of the human pan-genome
-
R. Li, Y. Li, H. Zheng, R. Luo, H. Zhu, Q. Li, W. Qian, Y. Ren, G. Tian, J. Li, G. Zhou, X. Zhu, H.Wu, J. Qin, X. Jin, D. Li, H. Cao, X. Hu, H. Blanche, H. Cann, X. Zhang, S. Li, L. Bolund, K. Kristiansen, H. Yang, J. Wang, J. Wang, Building the sequence map of the human pan-genome, Nat. Biotechnol. 28 (2012) 57-63.
-
(2012)
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
Zhou, G.11
Zhu, X.12
Wu, H.13
Qin, J.14
Jin, X.15
Li, D.16
Cao, H.17
Hu, X.18
Blanche, H.19
Cann, H.20
Zhang, X.21
Li, S.22
Bolund, L.23
Kristiansen, K.24
Yang, H.25
Wang, J.26
Wang, J.27
more..
-
52
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
D.A. Wheeler, M. Srinivasan, M. Egholm, Y. Shen, L. Chen, A. McGuire, W. He, Y.-J. Chen, V. Makhijani, G.T. Roth, X. Gomes, K. Tartaro, F. Niazi, C.L. Turcotte, G.P. Irzyk, J.R. Lupski, C. Chinault, X.-Z. Song, Y. Liu, Y. Yuan, L. Nazareth, X. Qin, D.M. Muzny, M. Margulies, G.M. Weinstock, R.A. Gibbs, J.M. Rothberg, The complete genome of an individual by massively parallel DNA sequencing, Nature 452 (2008) 872-876.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
He, W.7
Chen, Y.-J.8
Makhijani, V.9
Roth, G.T.10
Gomes, X.11
Tartaro, K.12
Niazi, F.13
Turcotte, C.L.14
Irzyk, G.P.15
Lupski, J.R.16
Chinault, C.17
Song, X.-Z.18
Liu, Y.19
Yuan, Y.20
Nazareth, L.21
Qin, X.22
Muzny, D.M.23
Margulies, M.24
Weinstock, G.M.25
Gibbs, R.A.26
Rothberg, J.M.27
more..
-
53
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
R.E. Mills, K. Walter, C. Stewart, R.E. Handsaker, K. Chen, C. Alkan, A. Abyzov, S.C. Yoon, K. Ye, R.K. Cheetham, A. Chinwalla, D.F. Conrad, Y. Fu, F. Grubert, I. Hajirasouliha, F. Hormozdiari, L.M. Iakoucheva, Z. Iqbal, S. Kang, J.M. Kidd, M.K. Konkel, J. Korn, E. Khurana, D. Kural, H.Y.K. Lam, J. Leng, R. Li, Y. Li, C.-Y. Lin, R. Luo, X.J. Mu, J. Nemesh, H.E. Peckham, T. Rausch, A. Scally, X. Shi, M.P. Stromberg, A.M. Stutz, A.E. Urban, J.A. Walker, J. Wu, Y. Zhang, Z.D. Zhang, M.A. Batzer, L. Ding, G.T. Marth, G. McVean, J. Sebat, M. Snyder, J. Wang, K. Ye, E.E. Eichler, M.B. Gerstein, M.E. Hurles, C. Lee, S.A. McCarroll, J.O. Korbel, Mapping copy number variation by population-scale genome sequencing, Nature 470 (2011) 59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
Chinwalla, A.11
Conrad, D.F.12
Fu, Y.13
Grubert, F.14
Hajirasouliha, I.15
Hormozdiari, F.16
Iakoucheva, L.M.17
Iqbal, Z.18
Kang, S.19
Kidd, J.M.20
Konkel, M.K.21
Korn, J.22
Khurana, E.23
Kural, D.24
Lam, H.Y.K.25
Leng, J.26
Li, R.27
Li, Y.28
Lin, C.-Y.29
Luo, R.30
Mu, X.J.31
Nemesh, J.32
Peckham, H.E.33
Rausch, T.34
Scally, A.35
Shi, X.36
Stromberg, M.P.37
Stutz, A.M.38
Urban, A.E.39
Walker, J.A.40
Wu, J.41
Zhang, Y.42
Zhang, Z.D.43
Batzer, M.A.44
Ding, L.45
Marth, G.T.46
McVean, G.47
Sebat, J.48
Snyder, M.49
Wang, J.50
Ye, K.51
Eichler, E.E.52
Gerstein, M.B.53
Hurles, M.E.54
Lee, C.55
McCarroll, S.A.56
Korbel, J.O.57
more..
-
54
-
-
78650909427
-
Limitations of next-generation genome sequence assembly
-
C. Alkan, S. Sajjadian, E.E. Eichler, Limitations of next-generation genome sequence assembly, Nat. Methods 8 (2011) 61-65.
-
(2011)
Nat. Methods
, vol.8
, pp. 61-65
-
-
Alkan, C.1
Sajjadian, S.2
Eichler, E.E.3
-
55
-
-
37549033125
-
Psoriasis is associated with increased beta-defensin genomic copy number
-
E.J. Hollox, U. Huffmeier, P. Zeeuwen, R. Palla, J. Lascorz, D. Rodijk-Olthuis, P.C.M. van de Kerkhof, H. Traupe, G. de Jongh, M. den Heijer, A. Reis, J.A.L. Armour, J. Schalkwijk, Psoriasis is associated with increased beta-defensin genomic copy number, Nat. Genet. 40 (2008) 23-25.
-
(2008)
Nat. Genet.
, vol.40
, pp. 23-25
-
-
Hollox, E.J.1
Huffmeier, U.2
Zeeuwen, P.3
Palla, R.4
Lascorz, J.5
Rodijk-Olthuis, D.6
van de Kerkhof, P.C.M.7
Traupe, H.8
de Jongh, G.9
den Heijer, M.10
Reis, A.11
Armour, J.A.L.12
Schalkwijk, J.13
-
56
-
-
79953766940
-
Tumour evolution inferred by single-cell sequencing
-
N. Navin, J. Kendall, J. Troge, P. Andrews, L. Rodgers, J. McIndoo, K. Cook, A. Stepansky, D. Levy, D. Esposito, L. Muthuswamy, A. Krasnitz, W.R. McCombie, J. Hicks, M. Wigler, Tumour evolution inferred by single-cell sequencing, Nature 472 (2012) 90-94.
-
(2012)
Nature
, vol.472
, pp. 90-94
-
-
Navin, N.1
Kendall, J.2
Troge, J.3
Andrews, P.4
Rodgers, L.5
McIndoo, J.6
Cook, K.7
Stepansky, A.8
Levy, D.9
Esposito, D.10
Muthuswamy, L.11
Krasnitz, A.12
McCombie, W.R.13
Hicks, J.14
Wigler, M.15
|