-
2
-
-
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
-
3
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (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
-
4
-
-
62549145367
-
The role of rare structural variants in the genetics of autism spectrum disorders
-
Kusenda M, Sebat J (2008) The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res 123: 36-43.
-
(2008)
Cytogenet Genome Res
, vol.123
, pp. 36-43
-
-
Kusenda, M.1
Sebat, J.2
-
5
-
-
62549101646
-
Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus
-
Ptacek T, Li X, Kelley JM, Edberg JC (2008) Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus. Cytogenet Genome Res 123: 142-147.
-
(2008)
Cytogenet Genome Res
, vol.123
, pp. 142-147
-
-
Ptacek, T.1
Li, X.2
Kelley, J.M.3
Edberg, J.C.4
-
6
-
-
39749197456
-
Genotype, haplotype and copy-number variation in worldwide human populations
-
DOI 10.1038/nature06742, PII NATURE06742
-
Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, et al. (2008) Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451: 998-1003. (Pubitemid 351301742)
-
(2008)
Nature
, vol.451
, Issue.7181
, pp. 998-1003
-
-
Jakobsson, M.1
Scholz, S.W.2
Scheet, P.3
Gibbs, J.R.4
VanLiere, J.M.5
Fung, H.-C.6
Szpiech, Z.A.7
Degnan, J.H.8
Wang, K.9
Guerreiro, R.10
Bras, J.M.11
Schymick, J.C.12
Hernandez, D.G.13
Traynor, B.J.14
Simon-Sanchez, J.15
Matarin, M.16
Britton, A.17
Van De, L.J.18
Rafferty, I.19
Bucan, M.20
Cann, H.M.21
Hardy, J.A.22
Rosenberg, N.A.23
Singleton, A.B.24
more..
-
7
-
-
62549106228
-
Large-scale copy number variants (CNVs) detected in different ethnic human populations
-
Takahashi N, Satoh Y, Kodaira M, Katayama H (2008) Large-scale copy number variants (CNVs) detected in different ethnic human populations. Cytogenet Genome Res 123: 224-233.
-
(2008)
Cytogenet Genome Res
, vol.123
, pp. 224-233
-
-
Takahashi, N.1
Satoh, Y.2
Kodaira, M.3
Katayama, H.4
-
8
-
-
35748971743
-
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases
-
DOI 10.1093/hmg/ddm208
-
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. (Pubitemid 350048378)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.23
, pp. 2783-2794
-
-
De Smith, A.J.1
Tsalenko, A.2
Sampas, N.3
Scheffer, A.4
Yamada, N.A.5
Tsang, P.6
Ben-dor, A.7
Yakhini, Z.8
Ellis, R.J.9
Bruhn, L.10
Laderman, S.11
Froguel, P.12
Blakemore, A.I.F.13
-
9
-
-
64349108121
-
Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome
-
Shen Y, Wu BL (2009) Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome. J Genet Genomics 36: 257-265.
-
(2009)
J Genet Genomics
, vol.36
, pp. 257-265
-
-
Shen, Y.1
Wu, B.L.2
-
10
-
-
78649559271
-
Detection of clinically relevant exonic copy-number changes by array CGH
-
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, et al. (2010) Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 31: 1326-1342.
-
(2010)
Hum Mutat
, vol.31
, pp. 1326-1342
-
-
Boone, P.M.1
Bacino, C.A.2
Shaw, C.A.3
Eng, P.A.4
Hixson, P.M.5
-
11
-
-
70449704529
-
Computational methods for discovering structural variation with next-generation sequencing
-
Medvedev P, Stanciu M, Brudno M (2009) Computational methods for discovering structural variation with next-generation sequencing. Nat Methods 6: S13-20.
-
(2009)
Nat Methods
, vol.6
-
-
Medvedev, P.1
Stanciu, M.2
Brudno, M.3
-
12
-
-
77950348516
-
Genome variation discovery with high-throughput sequencing data
-
Dalca AV, Brudno M (2010) Genome variation discovery with high-throughput sequencing data. Brief Bioinform 11: 3-14.
-
(2010)
Brief Bioinform
, vol.11
, pp. 3-14
-
-
Dalca, A.V.1
Brudno, M.2
-
13
-
-
44349191457
-
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
-
DOI 10.1038/ng.128, PII NG128
-
Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, et al. (2008) Identification of somatically acquired rearrangements in cancer using genomewide massively parallel paired-end sequencing. Nat Genet 40: 722-729. (Pubitemid 351748860)
-
(2008)
Nature Genetics
, vol.40
, Issue.6
, pp. 722-729
-
-
Campbell, P.J.1
Stephens, P.J.2
Pleasance, E.D.3
O'Meara, S.4
Li, H.5
Santarius, T.6
Stebbings, L.A.7
Leroy, C.8
Edkins, S.9
Hardy, C.10
Teague, J.W.11
Menzies, A.12
Goodhead, I.13
Turner, D.J.14
Clee, C.M.15
Quail, M.A.16
Cox, A.17
Brown, C.18
Durbin, R.19
Hurles, M.E.20
Edwards, P.A.W.21
Bignell, G.R.22
Stratton, M.R.23
Futreal, P.A.24
more..
-
14
-
-
58149218240
-
High-resolution mapping of copy-number alterations with massively parallel sequencing
-
Chiang DY, Getz G, Jaffe DB, O'Kelly MJ, Zhao X, et al. (2009) High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods 6: 99-103.
-
(2009)
Nat Methods
, vol.6
, pp. 99-103
-
-
Chiang, D.Y.1
Getz, G.2
Jaffe, D.B.3
O'Kelly, M.J.4
Zhao, X.5
-
15
-
-
64849083125
-
CNV-seq, a new method to detect copy number variation using high-throughput sequencing
-
Xie C, Tammi MT (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
-
16
-
-
79951748341
-
CNAseg-a novel framework for identification of copy number changes in cancer from second-generation sequencing data
-
Ivakhno S, Royce T, Cox AJ, Evers DJ, Cheetham RK, et al. (2010) CNAseg-a novel framework for identification of copy number changes in cancer from second-generation sequencing data. Bioinformatics 26: 3051-3058.
-
(2010)
Bioinformatics
, vol.26
, pp. 3051-3058
-
-
Ivakhno, S.1
Royce, T.2
Cox, A.J.3
Evers, D.J.4
Cheetham, R.K.5
-
17
-
-
79551621409
-
ReadDepth: A parallel R package for detecting copy number alterations from short sequencing reads
-
Miller CA, Hampton O, Coarfa C, Milosavljevic A (2011) ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads. PLoS One 6: e16327.
-
(2011)
PLoS One
, vol.6
-
-
Miller, C.A.1
Hampton, O.2
Coarfa, C.3
Milosavljevic, A.4
-
18
-
-
77955635446
-
rSW-seq: Algorithm for detection of copy number alterations in deep sequencing data
-
Kim TM, Luquette LJ, Xi R, Park PJ (2010) rSW-seq: algorithm for detection of copy number alterations in deep sequencing data. BMC Bioinformatics 11: 432.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 432
-
-
Kim, T.M.1
Luquette, L.J.2
Xi, R.3
Park, P.J.4
-
19
-
-
59949099708
-
Comparison of Prenatal Risk Calculation (PRC) with PIA Fetal Database software in first-trimester screening for fetal aneuploidy
-
Hormansdorfer C, Scharf A, Golatta M, Vaske B, Corral A, et al. (2009) Comparison of Prenatal Risk Calculation (PRC) with PIA Fetal Database software in first-trimester screening for fetal aneuploidy. Ultrasound Obstet Gynecol 33: 147-151.
-
(2009)
Ultrasound Obstet Gynecol
, vol.33
, pp. 147-151
-
-
Hormansdorfer, C.1
Scharf, A.2
Golatta, M.3
Vaske, B.4
Corral, A.5
-
20
-
-
69749122557
-
Sensitive and accurate detection of copy number variants using read depth of coverage
-
Yoon S, Xuan Z, Makarov V, Ye K, Sebat J (2009) Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res 19: 1586-1592.
-
(2009)
Genome Res
, vol.19
, pp. 1586-1592
-
-
Yoon, S.1
Xuan, Z.2
Makarov, V.3
Ye, K.4
Sebat, J.5
-
21
-
-
34547702426
-
Decreasing amplification bias associated with multiple displacement amplification and short tandem repeat genotyping
-
DOI 10.1016/j.ab.2007.05.017, PII S0003269707003314
-
Ballantyne KN, van Oorschot RA, Muharam I, van Daal A, Mitchell RJ (2007) Decreasing amplification bias associated with multiple displacement amplification and short tandem repeat genotyping. Anal Biochem 368: 222-229. (Pubitemid 47208549)
-
(2007)
Analytical Biochemistry
, vol.368
, Issue.2
, pp. 222-229
-
-
Ballantyne, K.N.1
Van Oorschot, R.A.H.2
Muharam, I.3
Van Daal, A.4
John, M.R.5
-
22
-
-
79951970227
-
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
-
Abyzov A, Urban AE, Snyder M, Gerstein M (2011) CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21: 974-984.
-
(2011)
Genome Res
, vol.21
, pp. 974-984
-
-
Abyzov, A.1
Urban, A.E.2
Snyder, M.3
Gerstein, M.4
-
23
-
-
52649157765
-
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing
-
Dohm JC, Lottaz C, Borodina T, Himmelbauer H (2008) Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res 36: e105.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Dohm, J.C.1
Lottaz, C.2
Borodina, T.3
Himmelbauer, H.4
-
24
-
-
78650911222
-
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
-
Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, et al. (2011) Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 88: 70-75.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 70-75
-
-
Klopocki, E.1
Lohan, S.2
Brancati, F.3
Koll, R.4
Brehm, A.5
-
25
-
-
80455126001
-
Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems
-
Minoche AE, Dohm JC, Himmelbauer H (2011) Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems. Genome Biol 12: R112.
-
(2011)
Genome Biol
, vol.12
-
-
Minoche, A.E.1
Dohm, J.C.2
Himmelbauer, H.3
-
26
-
-
77955255742
-
Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics
-
Fan HC, Quake SR (2010) Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One 5: e10439.
-
(2010)
PLoS One
, vol.5
-
-
Fan, H.C.1
Quake, S.R.2
-
27
-
-
84857170661
-
Read count approach for DNA copy number variants detection
-
Magi A, Tattini L, Pippucci T, Torricelli F, Benelli M (2012) Read count approach for DNA copy number variants detection. Bioinformatics 28: 470-478.
-
(2012)
Bioinformatics
, vol.28
, pp. 470-478
-
-
Magi, A.1
Tattini, L.2
Pippucci, T.3
Torricelli, F.4
Benelli, M.5
-
28
-
-
3543105225
-
Circular binary segmentation for the analysis of array-based DNA copy number data
-
DOI 10.1093/biostatistics/kxh008
-
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. (Pubitemid 41180205)
-
(2004)
Biostatistics
, vol.5
, Issue.4
, pp. 557-572
-
-
Olshen, A.B.1
Venkatraman, E.S.2
Lucito, R.3
Wigler, M.4
-
29
-
-
77749291826
-
A shifting level model algorithm that identifies aberrations in array-CGH data
-
Magi A, Benelli M, Marseglia G, Nannetti G, Scordo MR, et al. (2010) A shifting level model algorithm that identifies aberrations in array-CGH data. Biostatistics 11: 265-280.
-
(2010)
Biostatistics
, vol.11
, pp. 265-280
-
-
Magi, A.1
Benelli, M.2
Marseglia, G.3
Nannetti, G.4
Scordo, M.R.5
-
30
-
-
0000933735
-
On a test whether two samples are from the same population
-
Wald A, Wolfowitz J (1940) On a test whether two samples are from the same population. The Annals of Mathematical Statistics 11: 147-162.
-
(1940)
The Annals of Mathematical Statistics
, vol.11
, pp. 147-162
-
-
Wald, A.1
Wolfowitz, J.2
-
31
-
-
67650711615
-
SOAP2: An improved ultrafast tool for short read alignment
-
Li R, Yu C, Li Y, Lam TW, Yiu SM, et al. (2009) SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 25: 1966-1967.
-
(2009)
Bioinformatics
, vol.25
, pp. 1966-1967
-
-
Li, R.1
Yu, C.2
Li, Y.3
Lam, T.W.4
Yiu, S.M.5
-
32
-
-
84865591846
-
A tale of three next generation sequencing platforms: Comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
-
Quail MA, Smith M, Coupland P, Otto TD, Harris SR, et al. (2012) A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics 13: 341.
-
(2012)
BMC Genomics
, vol.13
, pp. 341
-
-
Quail, M.A.1
Smith, M.2
Coupland, P.3
Otto, T.D.4
Harris, S.R.5
|