-
1
-
-
77950460950
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2009) Origins and functional impact of copy number variation in the human genome. Nature.
-
(2009)
Nature
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Et al.6
-
2
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 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
-
3
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, et al. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315: 848-853.
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
Ingle, C.E.4
Beazley, C.5
-
4
-
-
70349985243
-
Copy number variation influences gene expression and metabolic traits in mice
-
Orozco LD, Cokus SJ, Ghazalpour A, Ingram-Drake L, Wang S, et al. (2009) Copy number variation influences gene expression and metabolic traits in mice. Hum Mol Genet 18: 4118-4129.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4118-4129
-
-
Orozco, L.D.1
Cokus, S.J.2
Ghazalpour, A.3
Ingram-Drake, L.4
Wang, S.5
-
5
-
-
63449117467
-
Segmental copy number variation shapes tissue transcriptomes
-
Henrichsen CN, Vinckenbosch N, Zollner S, Chaignat E, Pradervand S, et al. (2009) Segmental copy number variation shapes tissue transcriptomes. Nat Genet 41: 424-429.
-
(2009)
Nat Genet
, vol.41
, pp. 424-429
-
-
Henrichsen, C.N.1
Vinckenbosch, N.2
Zollner, S.3
Chaignat, E.4
Pradervand, S.5
-
6
-
-
63449086972
-
The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells
-
Cahan P, Li Y, Izumi M, Graubert TA (2009) The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells. Nat Genet 41: 430-437.
-
(2009)
Nat Genet
, vol.41
, pp. 430-437
-
-
Cahan, P.1
Li, Y.2
Izumi, M.3
Graubert, T.A.4
-
7
-
-
57749170986
-
Copy number variation and schizophrenia
-
St Clair D (2009) Copy number variation and schizophrenia. Schizophr Bull 35: 9-12.
-
(2009)
Schizophr Bull
, vol.35
, pp. 9-12
-
-
St Clair, D.1
-
8
-
-
38949142316
-
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura
-
Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, et al. (2008) Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood 111: 1029-1038.
-
(2008)
Blood
, vol.111
, pp. 1029-1038
-
-
Breunis, W.B.1
van Mirre, E.2
Bruin, M.3
Geissler, J.4
de Boer, M.5
-
9
-
-
37549033125
-
Psoriasis is associated with increased beta-defensin genomic copy number
-
Hollox EJ, Huffmeier U, Zeeuwen PL, Palla R, Lascorz J, 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
-
10
-
-
34347348166
-
Challenges and standards in integrating surveys of structural variation
-
Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, et al. (2007) Challenges and standards in integrating surveys of structural variation. Nat Genet 39: S7-15.
-
(2007)
Nat Genet
, vol.39
-
-
Scherer, S.W.1
Lee, C.2
Birney, E.3
Altshuler, D.M.4
Eichler, E.E.5
-
11
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK (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
-
12
-
-
33746513094
-
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
-
Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, et al. (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
-
13
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, et al. (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
-
14
-
-
38849101781
-
Significant gene content variation characterizes the genomes of inbred mouse strains
-
Cutler G, Marshall LA, Chin N, Baribault H, Kassner PD (2007) Significant gene content variation characterizes the genomes of inbred mouse strains. Genome Res 17: 1743-1754.
-
(2007)
Genome Res
, vol.17
, pp. 1743-1754
-
-
Cutler, G.1
Marshall, L.A.2
Chin, N.3
Baribault, H.4
Kassner, P.D.5
-
15
-
-
42449115721
-
wuHMM: A robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data
-
Cahan P, Godfrey LE, Eis PS, Richmond TA, Selzer RR, et al. (2008) wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data. Nucleic Acids Res 36: e41.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Cahan, P.1
Godfrey, L.E.2
Eis, P.S.3
Richmond, T.A.4
Selzer, R.R.5
Et al.6
-
16
-
-
46249114293
-
Mouse segmental duplication and copy number variation
-
She X, Cheng Z, Solider S, Church DM, Eichler EE (2008) Mouse segmental duplication and copy number variation. Nature Gentics 40: 909-914.
-
(2008)
Nature Gentics
, vol.40
, pp. 909-914
-
-
She, X.1
Cheng, Z.2
Solider, S.3
Church, D.M.4
Eichler, E.E.5
-
17
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Research 30:
-
(2002)
Nucleic Acids Research
, pp. 30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Et al.6
-
18
-
-
34548295740
-
A sequence-based variation map of 8.27 million SNPs in inbred mouse strains
-
Frazer KA, Eskin E, Kang HM, Bogue MA, Hinds DA, et al. (2007) A sequence-based variation map of 8.27 million SNPs in inbred mouse strains. Nature 448: 1050-1053.
-
(2007)
Nature
, vol.448
, pp. 1050-1053
-
-
Frazer, K.A.1
Eskin, E.2
Kang, H.M.3
Bogue, M.A.4
Hinds, D.A.5
-
19
-
-
66449134529
-
High resolution mapping of expression QTLs in heterogeneous stock mice in multiple tissues
-
Huang GJ, Shifman S, Valdar W, Johannesson M, Yalcin B, et al. (2009) High resolution mapping of expression QTLs in heterogeneous stock mice in multiple tissues. Genome Res 19: 1133-1140.
-
(2009)
Genome Res
, vol.19
, pp. 1133-1140
-
-
Huang, G.J.1
Shifman, S.2
Valdar, W.3
Johannesson, M.4
Yalcin, B.5
-
20
-
-
20444435572
-
SW-ARRAY: A dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data
-
Price TS, Regan R, Mott R, Hedman A, Honey B, et al. (2005) SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data. Nucleic Acids Res 33: 3455-3464.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 3455-3464
-
-
Price, T.S.1
Regan, R.2
Mott, R.3
Hedman, A.4
Honey, B.5
-
21
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski JR (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14: 417-422.
-
(1998)
Trends Genet
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
23
-
-
33846614650
-
A high-resolution map of segmental DNA copy number variation in the mouse genome
-
Graubert TA, Cahan P, Edwin D, Selzer RR, Richmond TA, et al. (2007) A high-resolution map of segmental DNA copy number variation in the mouse genome. PLoS Genet 3: e3.
-
(2007)
PLoS Genet
, vol.3
-
-
Graubert, T.A.1
Cahan, P.2
Edwin, D.3
Selzer, R.R.4
Richmond, T.A.5
-
24
-
-
73449095762
-
The pitfalls of platform comparison: DNA copy number array technologies assessed
-
Curtis C, Lynch AG, Dunning MJ, Spiteri I, Marioni JC, et al. (2009) The pitfalls of platform comparison: DNA copy number array technologies assessed. BMC Genomics 10: 588.
-
(2009)
BMC Genomics
, vol.10
, pp. 588
-
-
Curtis, C.1
Lynch, A.G.2
Dunning, M.J.3
Spiteri, I.4
Marioni, J.C.5
-
25
-
-
38049055222
-
Genomic copy number and expression variation within the C57BL/6J inbred mouse strain
-
Watkins-Chow DE, Pavan WJ (2008) Genomic copy number and expression variation within the C57BL/6J inbred mouse strain. Genome Research 18: 60-66.
-
(2008)
Genome Research
, vol.18
, pp. 60-66
-
-
Watkins-Chow, D.E.1
Pavan, W.J.2
-
26
-
-
41149140876
-
The fine-scale and complex architecture of human copy-number variation
-
Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, 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
-
27
-
-
77951860138
-
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
-
In press
-
Quinlan AR, Clark RA, Sokolova S, Leibowitz ML, Zhang Y, et al. (2010) Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Research. In press.
-
(2010)
Genome Research
-
-
Quinlan, A.R.1
Clark, R.A.2
Sokolova, S.3
Leibowitz, M.L.4
Zhang, Y.5
Et al.6
-
29
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. Bioinformatics Methods and Protocols 365-386.
-
(2000)
Bioinformatics Methods and Protocols
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
30
-
-
11844254278
-
Genetic dissection of a behavioral quantitative trait locus shows that Rgs2 modulates anxiety in mice
-
Yalcin B, Willis-Owen SA, Fullerton J, Meesaq A, Deacon RM, et al. (2004) Genetic dissection of a behavioral quantitative trait locus shows that Rgs2 modulates anxiety in mice. Nat Genet 36: 1197-1202.
-
(2004)
Nat Genet
, vol.36
, pp. 1197-1202
-
-
Yalcin, B.1
Willis-Owen, S.A.2
Fullerton, J.3
Meesaq, A.4
Deacon, R.M.5
-
31
-
-
0031955518
-
Base-calling of automated sequencer traces using phred. I. Accuracy assessment
-
Ewing B, Hillier L, Wendl MC, Green P (1998) Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 8: 175-185.
-
(1998)
Genome Res
, vol.8
, pp. 175-185
-
-
Ewing, B.1
Hillier, L.2
Wendl, M.C.3
Green, P.4
-
32
-
-
0031955116
-
Consed: A graphical tool for sequence finishing
-
Gordon D, Abajian C, Green P (1998) Consed: a graphical tool for sequence finishing. Genome Res 8: 195-202.
-
(1998)
Genome Res
, vol.8
, pp. 195-202
-
-
Gordon, D.1
Abajian, C.2
Green, P.3
-
33
-
-
33644914709
-
The real-time polymerase chain reaction
-
Kubista M, Andrade JM, Bengtsson M, Forootan A, Jonak J, et al. (2006) The real-time polymerase chain reaction. Mol Aspects Med 27: 95-125.
-
(2006)
Mol Aspects Med
, vol.27
, pp. 95-125
-
-
Kubista, M.1
Andrade, J.M.2
Bengtsson, M.3
Forootan, A.4
Jonak, J.5
-
34
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30: e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
-
35
-
-
3543105225
-
Circular binary segmentation for the analysis of array-based DNA copy number data
-
Olshen AB, Venkatraman ES, Lucito R, Wigler M (2004) Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 5: 557-572.
-
(2004)
Biostatistics
, vol.5
, pp. 557-572
-
-
Olshen, A.B.1
Venkatraman, E.S.2
Lucito, R.3
Wigler, M.4
-
36
-
-
34548851463
-
The C20orf133 gene is disrupted in a patient with Kabuki syndrome
-
Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, et al. (2007) The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet 44: 562-569.
-
(2007)
J Med Genet
, vol.44
, pp. 562-569
-
-
Maas, N.M.1
Van de Putte, T.2
Melotte, C.3
Francis, A.4
Schrander-Stumpel, C.T.5
-
37
-
-
42649092113
-
Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells
-
Boyden LM, Lewis JM, Barbee SD, Bas A, Girardi M, et al. (2008) Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nat Genet 40: 656-662.
-
(2008)
Nat Genet
, vol.40
, pp. 656-662
-
-
Boyden, L.M.1
Lewis, J.M.2
Barbee, S.D.3
Bas, A.4
Girardi, M.5
-
38
-
-
12344259648
-
Analysis of array CGH data: From signal ratio to gain and loss of DNA regions
-
Hupe P, Stransky N, Thiery JP, Radvanyi F, Barillot E (2004) Analysis of array CGH data: from signal ratio to gain and loss of DNA regions. Bioinformatics 20: 3413-3422.
-
(2004)
Bioinformatics
, vol.20
, pp. 3413-3422
-
-
Hupe, P.1
Stransky, N.2
Thiery, J.P.3
Radvanyi, F.4
Barillot, E.5
|