-
1
-
-
33749043929
-
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
-
Lee, J.A. and Lupski, J.R. (2006) Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron, 52, 103-121.
-
(2006)
Neuron
, vol.52
, pp. 103-121
-
-
Lee, J.A.1
Lupski, J.R.2
-
2
-
-
80755187820
-
Human copy number variation and complex genetic disease
-
Girirajan, S., Campbell, C.D. and Eichler, E.E. (2011) Human copy number variation and complex genetic disease. Annu. Rev. Genet., 45, 203-226.
-
(2011)
Annu. Rev. Genet.
, vol.45
, pp. 203-226
-
-
Girirajan, S.1
Campbell, C.D.2
Eichler, E.E.3
-
3
-
-
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
-
4
-
-
33748272115
-
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
-
Peiffer, D.A., Le, J.M., Steemers, F.J., Chang, W., Jenniges, T., Garcia, F., Haden, K., Li, J., Shaw, C.A., Belmont, J. et al. (2006) High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res., 16, 1136-1148.
-
(2006)
Genome Res.
, vol.16
, pp. 1136-1148
-
-
Peiffer, D.A.1
Le, J.M.2
Steemers, F.J.3
Chang, W.4
Jenniges, T.5
Garcia, F.6
Haden, K.7
Li, J.8
Shaw, C.A.9
Belmont, J.10
-
5
-
-
35948984173
-
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S.F., Hakonarson, H. and Bucan, M. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res., 17, 1665-1674.
-
(2007)
Genome Res.
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.6
Hakonarson, H.7
Bucan, M.8
-
6
-
-
34247877877
-
QuantiSNP: An Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
-
Colella, S., Yau, C., Taylor, J.M., Mirza, G., Butler, H., Clouston, P., Bassett, A.S., Seller, A., Holmes, C.C. and Ragoussis, J. (2007) QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res., 35, 2013-2025.
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 2013-2025
-
-
Colella, S.1
Yau, C.2
Taylor, J.M.3
Mirza, G.4
Butler, H.5
Clouston, P.6
Bassett, A.S.7
Seller, A.8
Holmes, C.C.9
Ragoussis, J.10
-
7
-
-
80051809428
-
Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array
-
Wellcome Trust Case Control Consortium
-
Cardin, N., Holmes, C., and Wellcome Trust Case Control Consortium, Donnelly, P. and Marchini, J. (2011) Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array. Genet. Epidemiol., 35, 536-548.
-
(2011)
Genet. Epidemiol.
, vol.35
, pp. 536-548
-
-
Cardin, N.1
Holmes, C.2
Donnelly, P.3
Marchini, J.4
-
8
-
-
56649103903
-
CNVDetector: Locating copy number variations using array CGH data
-
Chen, P.A., Liu, H.F. and Chao, K.M. (2008) CNVDetector: locating copy number variations using array CGH data. Bioinformatics, 24, 2773-2775.
-
(2008)
Bioinformatics
, vol.24
, pp. 2773-2775
-
-
Chen, P.A.1
Liu, H.F.2
Chao, K.M.3
-
9
-
-
34248523183
-
CGHcall: Calling aberrations for array CGH tumor profiles
-
van de Wiel, M.A., Kim, K.I., Vosse, S.J., van Wieringen, W.N., Wilting, S.M. and Ylstra, B. (2007) CGHcall: calling aberrations for array CGH tumor profiles. Bioinformatics, 23, 892-894.
-
(2007)
Bioinformatics
, vol.23
, pp. 892-894
-
-
Van De Wiel, M.A.1
Kim, K.I.2
Vosse, S.J.3
Van Wieringen, W.N.4
Wilting, S.M.5
Ylstra, B.6
-
10
-
-
64849083125
-
CNV-seq, a new method to detect copy number variation using high-throughput sequencing
-
Xie, C. and Tammi, M.T. (2009) CNV-seq, a new method to detect copy number variation using high-throughput sequencing. BMC Bioinformatics, 10, 80.
-
(2009)
BMC Bioinformatics
, vol.10
, pp. 80
-
-
Xie, C.1
Tammi, M.T.2
-
11
-
-
52949129447
-
A robust statistical method for case-control association testing with Copy Number Variation
-
Barnes, C., Plagnol, V., Fitzgerald, T., Redon, R., Marchini, J., Clayton, D. and Hurles, M.E. (2008) A robust statistical method for case-control association testing with Copy Number Variation. Nat. Genet., 40, 1245-1252.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1245-1252
-
-
Barnes, C.1
Plagnol, V.2
Fitzgerald, T.3
Redon, R.4
Marchini, J.5
Clayton, D.6
Hurles, M.E.7
-
12
-
-
52949085789
-
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
-
Korn, J.M., Kuruvilla, F.G., McCarroll, S.A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P.J., Darvishi, K. et al. (2008) Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat. Genet., 40, 1253-1260.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1253-1260
-
-
Korn, J.M.1
Kuruvilla, F.G.2
McCarroll, S.A.3
Wysoker, A.4
Nemesh, J.5
Cawley, S.6
Hubbell, E.7
Veitch, J.8
Collins, P.J.9
Darvishi, K.10
-
13
-
-
34548292504
-
PLINK: A toolset for whole-genome association and population-based linkage analysis
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A.R., Bender, D., Maller, J., Sklar, P., de Bakker, P.I.W., Daly, M.J. et al. (2007) PLINK: a toolset for whole-genome association and population-based linkage analysis. Am. J. Hum. Genet., 81, 559-575.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
Maller, J.7
Sklar, P.8
De Bakker, P.I.W.9
Daly, M.J.10
-
14
-
-
79956279454
-
CNVassoc: Association analysis of CNV data using R
-
Subirana, I., Diaz-Uriarte, R., Lucas, G. and Gonzalez, J.R. (2011) CNVassoc: association analysis of CNV data using R. BMC Med. Genomics., 4, 47.
-
(2011)
BMC Med. Genomics.
, vol.4
, pp. 47
-
-
Subirana, I.1
Diaz-Uriarte, R.2
Lucas, G.3
Gonzalez, J.R.4
-
15
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price, A.L., Patterson, N.J., Plenge, R.M., Weinblatt, M.E., Shadick, N.A. and Reich, D. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904-909.
-
(2006)
Nat. Genet.
, vol.38
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
Weinblatt, M.E.4
Shadick, N.A.5
Reich, D.6
-
16
-
-
42149109325
-
Improved correction for population stratification in genomewide association studies by identifying hidden population structures
-
Li, Q. and Yu, K. (2008) Improved correction for population stratification in genomewide association studies by identifying hidden population structures. Genet. Epid., 32, 215-226.
-
(2008)
Genet. Epid.
, vol.32
, pp. 215-226
-
-
Li, Q.1
Yu, K.2
-
17
-
-
79958162661
-
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
-
Pinto, D., Darvishi, K., Shi, X., Rajan, D., Rigler, D., Fitzgerald, T., Lionel, A.C., Thiruvahindrapuram, B., Macdonald, J.R., Mills, R. et al. (2011) Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat. Biotechnol, 29, 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
-
19
-
-
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
-
20
-
-
33751527925
-
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
-
Zhang, J., Feuk, L., Duggan, G.E., Khaja, R. and Scherer, S.W. (2006) Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet. Genome Res., 115, 205-214.
-
(2006)
Cytogenet. Genome Res.
, vol.115
, pp. 205-214
-
-
Zhang, J.1
Feuk, L.2
Duggan, G.E.3
Khaja, R.4
Scherer, S.W.5
-
21
-
-
0022388354
-
Two tandemly organized human genes encoding the T-cell gamma constant-region sequences show multiple rearrangement in different T-cell types
-
Lefranc, M.P. and Rabbitts, T.H. (1985) Two tandemly organized human genes encoding the T-cell gamma constant-region sequences show multiple rearrangement in different T-cell types. Nature, 316, 464-466.
-
(1985)
Nature
, vol.316
, pp. 464-466
-
-
Lefranc, M.P.1
Rabbitts, T.H.2
-
22
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner, J.T., Wang, K., Cai, G., Korvatska, O., Kim, C.E., Wood, S., Zhang, H., Estes, A., Brune, C.W., Bradfield, J.P. et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature, 459, 569-573.
-
(2009)
Nature
, vol.459
, pp. 569-573
-
-
Glessner, J.T.1
Wang, K.2
Cai, G.3
Korvatska, O.4
Kim, C.E.5
Wood, S.6
Zhang, H.7
Estes, A.8
Brune, C.W.9
Bradfield, J.P.10
-
23
-
-
77953776675
-
Strong synaptic transmission impact by copy number variations in schizophrenia
-
Glessner, J.T., Reilly, M.P., Kim, C.E., Takahashi, N., Albano, A., Hou, C., Bradfield, J.P., Zhang, H., Sleiman, P.M., Flory, J.H. et al. (2010) Strong synaptic transmission impact by copy number variations in schizophrenia. Proc. Natl Acad. Sci. USA, 107, 10584-10589.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 10584-10589
-
-
Glessner, J.T.1
Reilly, M.P.2
Kim, C.E.3
Takahashi, N.4
Albano, A.5
Hou, C.6
Bradfield, J.P.7
Zhang, H.8
Sleiman, P.M.9
Flory, J.H.10
-
24
-
-
78649831407
-
Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder
-
Glessner, J.T., Wang, K., Sleiman, P.M., Zhang, H., Kim, C.E., Flory, J.H., Bradfield, J.P., Imielinski, M., Frackelton, E.C., Qiu, H. et al. (2010) Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder. PLoS One, 5, e15463.
-
(2010)
PLoS One
, vol.5
-
-
Glessner, J.T.1
Wang, K.2
Sleiman, P.M.3
Zhang, H.4
Kim, C.E.5
Flory, J.H.6
Bradfield, J.P.7
Imielinski, M.8
Frackelton, E.C.9
Qiu, H.10
-
25
-
-
78249239776
-
A genome-wide study reveals copy number variants exclusive to childhood obesity cases
-
Glessner, J.T., Bradfield, J.P., Wang, K., Takahashi, N., Zhang, H., Sleiman, P.M., Mentch, F.D., Kim, C.E., Hou, C., Thomas, K.A. et al. (2010) A genome-wide study reveals copy number variants exclusive to childhood obesity cases. Am. J. Hum. Genet., 87, 661-666.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 661-666
-
-
Glessner, J.T.1
Bradfield, J.P.2
Wang, K.3
Takahashi, N.4
Zhang, H.5
Sleiman, P.M.6
Mentch, F.D.7
Kim, C.E.8
Hou, C.9
Thomas, K.A.10
-
26
-
-
79957874121
-
Genome-wide association identifies diverse causes of common variable immunodeficiency
-
Orange, J.S., Glessner, J.T., Resnick, E., Sullivan, K.E., Lucas, M., Ferry, B., Kim, C.E., Hou, C., Wang, F., Chiavacci, R. et al. (2011) Genome-wide association identifies diverse causes of common variable immunodeficiency. J. Allergy Clin. Immunol., 127, 1360-1367.
-
(2011)
J. Allergy Clin. Immunol.
, vol.127
, pp. 1360-1367
-
-
Orange, J.S.1
Glessner, J.T.2
Resnick, E.3
Sullivan, K.E.4
Lucas, M.5
Ferry, B.6
Kim, C.E.7
Hou, C.8
Wang, F.9
Chiavacci, R.10
-
27
-
-
84655176643
-
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
-
Elia, J., Glessner, J.T., Wang, K., Takahashi, N., Shtir, C.J., Hadley, D., Sleiman, P.M., Zhang, H., Kim, C.E., Robison, R. et al. (2011) Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat. Genet., 44, 78-84.
-
(2011)
Nat. Genet.
, vol.44
, pp. 78-84
-
-
Elia, J.1
Glessner, J.T.2
Wang, K.3
Takahashi, N.4
Shtir, C.J.5
Hadley, D.6
Sleiman, P.M.7
Zhang, H.8
Kim, C.E.9
Robison, R.10
-
28
-
-
57149093420
-
Modeling genetic inheritance of copy number variations
-
Wang, K., Chen, Z., Tadesse, M.G., Glessner, J., Grant, S.F., Hakonarson, H., Bucan, M. and Li, M. (2008) Modeling genetic inheritance of copy number variations. Nucleic Acids Res., 36, e138.
-
(2008)
Nucleic Acids Res.
, vol.36
-
-
Wang, K.1
Chen, Z.2
Tadesse, M.G.3
Glessner, J.4
Grant, S.F.5
Hakonarson, H.6
Bucan, M.7
Li, M.8
-
29
-
-
56049110212
-
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
-
Diskin, S.J., Li, M., Hou, C., Yang, S., Glessner, J., Hakonarson, H., Bucan, M., Maris, J.M. and Wang, K. (2008) Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res., 36, e126.
-
(2008)
Nucleic Acids Res.
, vol.36
-
-
Diskin, S.J.1
Li, M.2
Hou, C.3
Yang, S.4
Glessner, J.5
Hakonarson, H.6
Bucan, M.7
Maris, J.M.8
Wang, K.9
-
30
-
-
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
-
31
-
-
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
-
32
-
-
67650763435
-
RJaCGH: Bayesian analysis of aCGH arrays for detecting copy number changes and recurrent regions
-
Rueda, O.M. and Diaz-Uriarte, R. (2009) RJaCGH: Bayesian analysis of aCGH arrays for detecting copy number changes and recurrent regions. Bioinformatics, 25, 1959-1960.
-
(2009)
Bioinformatics
, vol.25
, pp. 1959-1960
-
-
Rueda, O.M.1
Diaz-Uriarte, R.2
-
33
-
-
84864005430
-
CNVRuler: A copy number variation-based case-control association analysis tool
-
Kim, J.H., Hu, H.J., Yim, S.H., Bae, J.S., Kim, S.Y. and Chung, Y.J. (2012) CNVRuler: a copy number variation-based case-control association analysis tool. Bioinformatics, 28, 1790-1792.
-
(2012)
Bioinformatics
, vol.28
, pp. 1790-1792
-
-
Kim, J.H.1
Hu, H.J.2
Yim, S.H.3
Bae, J.S.4
Kim, S.Y.5
Chung, Y.J.6
-
34
-
-
77953344765
-
CONAN: Copy number variation analysis software for genome-wide association studies
-
Forer, L., Schönherr, S., Weissensteiner, H., Haider, F., Kluckner, T., Gieger, C., Wichmann, H.E., Specht, G., Kronenberg, F. and Kloss-Brandstätter, A. (2010) CONAN: copy number variation analysis software for genome-wide association studies. BMC Bioinformatics, 11, 318.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 318
-
-
Forer, L.1
Schönherr, S.2
Weissensteiner, H.3
Haider, F.4
Kluckner, T.5
Gieger, C.6
Wichmann, H.E.7
Specht, G.8
Kronenberg, F.9
Kloss-Brandstätter, A.10
-
35
-
-
77249147043
-
CNV Workshop: An integrated platform for high-throughput copy number variation discovery and clinical diagnostics
-
Gai, X., Perin, J.C., Murphy, K., O'Hara, R., D'arcy, M., Wenocur, A., Xie, H.M., Rappaport, E.F., Shaikh, T.H. and White, P.S. (2010) CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. BMC Bioinformatics, 11, 74.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 74
-
-
Gai, X.1
Perin, J.C.2
Murphy, K.3
O'Hara, R.4
D'Arcy, M.5
Wenocur, A.6
Xie, H.M.7
Rappaport, E.F.8
Shaikh, T.H.9
White, P.S.10
-
36
-
-
68249093546
-
Statistical power of model selection strategies for genome-wide association studies
-
Wu, Z. and Zhao, H. (2009) Statistical power of model selection strategies for genome-wide association studies. PLoS Genet., 5, e1000582.
-
(2009)
PLoS Genet.
, vol.5
-
-
Wu, Z.1
Zhao, H.2
|