-
1
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al. (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
-
2
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
-
3
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, 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
-
4
-
-
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
-
5
-
-
33846006596
-
A comprehensive analysis of common copy-number variations in the human genome
-
Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, et al. (2007) A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80: 91-104.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 91-104
-
-
Wong, K.K.1
deLeeuw, R.J.2
Dosanjh, N.S.3
Kimm, L.R.4
Cheng, Z.5
-
7
-
-
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
-
8
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-449.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
-
9
-
-
34249815834
-
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
-
Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, 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
-
10
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/ AIDS susceptibility
-
Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, et al. (2005) The influence of CCL3L1 gene-containing segmental duplications on HIV-1/ AIDS susceptibility. Science 307: 1434-1440.
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
-
11
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, 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
-
12
-
-
34347354302
-
Mutational and selective effects on copy-number variants in the human genome
-
Cooper GM, Nickerson DA, Eichler EE (2007) Mutational and selective effects on copy-number variants in the human genome. Nat Genet 39: S22-29.
-
(2007)
Nat Genet
, vol.39
-
-
Cooper, G.M.1
Nickerson, D.A.2
Eichler, E.E.3
-
13
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, 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
-
14
-
-
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
-
15
-
-
29444450702
-
Common deletions and SNPs are in linkage disequilibrium in the human genome
-
Rinds DA, Kloek AP, Jen M, Chen X, Frazer KA (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
-
-
Rinds, D.A.1
Kloek, A.P.2
Jen, M.3
Chen, X.4
Frazer, K.A.5
-
16
-
-
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
-
17
-
-
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
-
18
-
-
35748971743
-
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases
-
de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, et al. (2007) Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet 16: 2783-2794.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2783-2794
-
-
de Smith, A.J.1
Tsalenko, A.2
Sampas, N.3
Scheffer, A.4
Yamada, N.A.5
-
19
-
-
0037250168
-
The UCSC Genome Browser Database
-
Karolchik D, Baertsch R, Diekhans M, Furey TS, Hinrichs A, et al. (2003) The UCSC Genome Browser Database. Nucleic Acids Res 31: 51-54.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 51-54
-
-
Karolchik, D.1
Baertsch, R.2
Diekhans, M.3
Furey, T.S.4
Hinrichs, A.5
-
20
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86: 425-441.
-
(1991)
Hum Genet
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
21
-
-
33745244299
-
Human genomic deletions mediated by recombination between Alu elements
-
Sen SK, Han K, Wang J, Lee J, Wang H, et al. (2006) Human genomic deletions mediated by recombination between Alu elements. Am J Hum Genet 79: 41-53.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 41-53
-
-
Sen, S.K.1
Han, K.2
Wang, J.3
Lee, J.4
Wang, H.5
-
22
-
-
35948983427
-
Alu recombination-mediated structural deletions in the chimpanzee genome
-
Han K, Lee J, Meyer TJ, Wang J, Sen SK, et al. (2007) Alu recombination-mediated structural deletions in the chimpanzee genome. PLoS Genet 3: 1939-1949.
-
(2007)
PLoS Genet
, vol.3
, pp. 1939-1949
-
-
Han, K.1
Lee, J.2
Meyer, T.J.3
Wang, J.4
Sen, S.K.5
-
23
-
-
24344442909
-
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
-
Linardopoulou EV, Williams EM, Fan Y, Friedman C, Young JM, et al. (2005) Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature 437: 94-100.
-
(2005)
Nature
, vol.437
, pp. 94-100
-
-
Linardopoulou, E.V.1
Williams, E.M.2
Fan, Y.3
Friedman, C.4
Young, J.M.5
-
24
-
-
34548585254
-
Ionizing radiation and restriction enzymes induce microhomology-mediated illegitimate recombination in Saccharomyces cerevisiae
-
Chan CY, Kiechle M, Manivasakam P, Schiestl RH (2007) Ionizing radiation and restriction enzymes induce microhomology-mediated illegitimate recombination in Saccharomyces cerevisiae. Nucleic Acids Res 35: 5051-5059.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 5051-5059
-
-
Chan, C.Y.1
Kiechle, M.2
Manivasakam, P.3
Schiestl, R.H.4
-
25
-
-
34548401682
-
Saccharomyces cerevisiae Sae2- and Tell-dependent single-strand DNA formation at DNA break promotes microhomology-mediated end joining
-
Lee K, Lee SE (2007) Saccharomyces cerevisiae Sae2- and Tell-dependent single-strand DNA formation at DNA break promotes microhomology-mediated end joining. Genetics 176: 2003-2014.
-
(2007)
Genetics
, vol.176
, pp. 2003-2014
-
-
Lee, K.1
Lee, S.E.2
-
26
-
-
37349109667
-
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
-
Lee JA, Carvalho CM, Lupski JR (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131: 1235-1247.
-
(2007)
Cell
, vol.131
, pp. 1235-1247
-
-
Lee, J.A.1
Carvalho, C.M.2
Lupski, J.R.3
-
27
-
-
23244439083
-
Role of poly(A) tail length in Alu retrotransposition
-
Dewannieux M, Heidmann T (2005) Role of poly(A) tail length in Alu retrotransposition. Genomics 86: 378-381.
-
(2005)
Genomics
, vol.86
, pp. 378-381
-
-
Dewannieux, M.1
Heidmann, T.2
-
28
-
-
0036811127
-
Transcription and double-strand breaks induce similar mitotic recombination events in Saccharomyces cerevisiae
-
Gonzalez-Barrera S, Garcia-Rubio M, Aguilera A (2002) Transcription and double-strand breaks induce similar mitotic recombination events in Saccharomyces cerevisiae. Genetics 162: 603-614.
-
(2002)
Genetics
, vol.162
, pp. 603-614
-
-
Gonzalez-Barrera, S.1
Garcia-Rubio, M.2
Aguilera, A.3
-
29
-
-
4644327494
-
Breakpoints of gross deletions coincide with non-B DNA conformations
-
Bacolla A, Jaworski A, Larson JE, Jakupciak JP, Chuzhanova N, et al. (2004) Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci U S A 101: 14162-14167.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 14162-14167
-
-
Bacolla, A.1
Jaworski, A.2
Larson, J.E.3
Jakupciak, J.P.4
Chuzhanova, N.5
-
30
-
-
34249907843
-
Non-B DNA conformations, mutagenesis and disease
-
Wells RD (2007) Non-B DNA conformations, mutagenesis and disease. Trends Biochem Sci 32: 271-278.
-
(2007)
Trends Biochem Sci
, vol.32
, pp. 271-278
-
-
Wells, R.D.1
-
31
-
-
17444413395
-
Alu retrotransposition-mediated deletion
-
Callinan PA, Wang J, Herke SW, Garber RK, Liang P, et al. (2005) Alu retrotransposition-mediated deletion. J Mol Biol 348: 791-800.
-
(2005)
J Mol Biol
, vol.348
, pp. 791-800
-
-
Callinan, P.A.1
Wang, J.2
Herke, S.W.3
Garber, R.K.4
Liang, P.5
-
32
-
-
0032559061
-
Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure
-
Cost GJ, Boeke JD (1998) Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure. Biochemistry 37: 18081-18093.
-
(1998)
Biochemistry
, vol.37
, pp. 18081-18093
-
-
Cost, G.J.1
Boeke, J.D.2
-
33
-
-
0041353551
-
LINE-mediated retrotransposition of marked Alu sequences
-
Dewannieux M, Esnault C, Heidmann T (2003) LINE-mediated retrotransposition of marked Alu sequences. Nat Genet 35: 41-48.
-
(2003)
Nat Genet
, vol.35
, pp. 41-48
-
-
Dewannieux, M.1
Esnault, C.2
Heidmann, T.3
-
35
-
-
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. Methods Mol Biol 132: 365-386.
-
(2000)
Methods Mol Biol
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
36
-
-
0042121237
-
Multiple sequence alignment with the Clustal series of programs
-
Chenna R, Sugawara H, Koike T, Lopez R, Gibson TJ, et al. (2003) Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res 31: 3497-3500.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3497-3500
-
-
Chenna, R.1
Sugawara, H.2
Koike, T.3
Lopez, R.4
Gibson, T.J.5
-
37
-
-
51849083181
-
-
Smit AFA, Hubley R, Green P (1996-2004) RepeatMasker Open-3.0. http://www.repratmasker.org.
-
Smit AFA, Hubley R, Green P (1996-2004) RepeatMasker Open-3.0. http://www.repratmasker.org.
-
-
-
-
38
-
-
0347755531
-
The UCSC Table Browser data retrieval tool
-
Karolchik D, Hinrichs AS, Furey TS, Roskin KM, Sugnet CW, et al. (2004) The UCSC Table Browser data retrieval tool. Nucleic Acids Res 32: D493-496.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Karolchik, D.1
Hinrichs, A.S.2
Furey, T.S.3
Roskin, K.M.4
Sugnet, C.W.5
-
39
-
-
33846039019
-
-
Hubbard TJ, Aken BL, Beal K, Ballester B, Caccamo M, et al. (2007) Ensembl 2007. Nucleic Acids Res 35: D610-617.
-
(2007)
Ensembl 2007. Nucleic Acids Res
, vol.35
-
-
Hubbard, T.J.1
Aken, B.L.2
Beal, K.3
Ballester, B.4
Caccamo, M.5
-
41
-
-
33644974019
-
A fast and flexible statistical model for large-scale population genotype data: Applications to inferring missing genotypes and haplotypic phase
-
Scheet P, Stephens M (2006) A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 78: 629-644.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 629-644
-
-
Scheet, P.1
Stephens, M.2
-
42
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
|