-
1
-
-
44849092474
-
The new paradigm of flow cell sequencing
-
Holt RA, Jones SJM: The new paradigm of flow cell sequencing. Genome Research 2008, 18(6):839-846.
-
(2008)
Genome Research
, vol.18
, Issue.6
, pp. 839-846
-
-
Holt, R.A.1
Jones, S.J.M.2
-
2
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J: Targeted capture and massively parallel sequencing of 12 human exomes. NATURE 2009, 461(7261):272-U353.
-
(2009)
NATURE
, vol.461
, Issue.7261
, pp. U272-U353
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
Bamshad, M.11
Nickerson, D.A.12
Shendure, J.13
-
4
-
-
73149123343
-
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
-
Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences of the United States of America 2009, 106(45):19096-19101.
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, Issue.45
, pp. 19096-19101
-
-
Choi, M.1
Scholl, U.I.2
Ji, W.3
Liu, T.4
Tikhonova, I.R.5
Zumbo, P.6
Nayir, A.7
Bakkaloglu, A.8
Ozen, S.9
Sanjad, S.10
Nelson-Williams, C.11
Farhi, A.12
Mane, S.13
Lifton, R.P.14
-
5
-
-
79952198057
-
Exome sequencing: the sweet spot before whole genomes
-
Teer JK, Mullikin JC: Exome sequencing: the sweet spot before whole genomes. Human Molecular Genetics 2010, 19(R2):R145-R151[http://hmg.oxfordjournals.org/content/19/R2/R145.abstract].
-
(2010)
Human Molecular Genetics
, vol.19
, Issue.R2
, pp. R145-R151
-
-
Teer, J.K.1
Mullikin, J.C.2
-
6
-
-
84861576201
-
The landscape of cancer genes and mutational processes in breast cancer
-
Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, Zainal SN, Martin S, Varela I, Bignell GR, Yates LR, Papaemmanuil E, Beare D, Butler A, Cheverton A, Gamble J, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, Lau KW, McLaren S, McBride DJ, Menzies A, Mudie L, Raine K, Rad R, Spencer Chapman M, Teague J, Easton D, Langerod A, Lee MTM, Shen CY, Tee BTK, Huimin BW, Broeks A, Vargas AC, Turashvili G, Martens J, Fatima A, Miron P, Chin SF, Thomas G, Boyault S, Mariani O, Lakhani SR, van de Vijver M, van/'t Veer L, Foekens J, Desmedt C, Sotiriou C, Tutt A, Caldas C, Reis-Filho JS, Aparicio SAJR, Salomon AV, Borresen-Dale AL, Richardson A, Campbell PJ, Futreal PA, Stratton MR: The landscape of cancer genes and mutational processes in breast cancer. Nature 2012, advance online publication:-, http://dx.doi.org/10.1038/nature11017.
-
(2012)
Nature
-
-
Stephens, P.J.1
Tarpey, P.S.2
Davies, H.3
Van Loo, P.4
Greenman, C.5
Wedge, D.C.6
Zainal, S.N.7
Martin, S.8
Varela, I.9
Bignell, G.R.10
Yates, L.R.11
Papaemmanuil, E.12
Beare, D.13
Butler, A.14
Cheverton, A.15
Gamble, J.16
Hinton, J.17
Jia, M.18
Jayakumar, A.19
Jones, D.20
Latimer, C.21
Lau, K.W.22
McLaren, S.23
McBride, D.J.24
Menzies, A.25
Mudie, L.26
Raine, K.27
Rad, R.28
Spencer Chapman, M.29
Teague, J.30
Easton, D.31
Langerod, A.32
Lee, M.T.M.33
Shen, C.Y.34
Tee, B.T.K.35
Huimin, B.W.36
Broeks, A.37
Vargas, A.C.38
Turashvili, G.39
Martens, J.40
Fatima, A.41
Miron, P.42
Chin, S.F.43
Thomas, G.44
Boyault, S.45
Mariani, O.46
Lakhani, S.R.47
van de Vijver, M.48
van't Veer, L.49
Foekens, J.50
Desmedt, C.51
Sotiriou, C.52
Tutt, A.53
Caldas, C.54
Reis-Filho, J.S.55
Aparicio, S.A.J.R.56
Salomon, A.V.57
Borresen-Dale, A.L.58
Richardson, A.59
Campbell, P.J.60
Futreal, P.A.61
Stratton, M.R.62
more..
-
7
-
-
84862523863
-
Sequence analysis of mutations and translocations across breast cancer subtypes
-
Banerji S, Cibulskis K, Rangel-Escareno C, Brown KK, Carter SL, Frederick AM, Lawrence MS, Sivachenko AY, Sougnez C, Zou L, Cortes ML, Fernandez- Lopez JC, Peng S, Ardlie KG, Auclair D, Bautista-Pina V, Duke F, Francis J, Jung J, Maffuz-Aziz A, Onofrio RC, Parkin M, Pho NH, Quintanar-Jurado V, Ramos AH, Rebollar-Vega R, Rodriguez-Cuevas S, Romero-Cordoba SL, Schumacher SE, Stransky N, Thompson KM, Uribe-Figueroa L, Baselga J, Beroukhim R, Polyak K, Sgroi DC, Richardson AL, Jimenez-Sanchez G, Lander ES, Gabriel SB, Garraway LA, Golub TR, Melendez-Zajgla J, Toker A, Getz G, Hidalgo-Miranda A, Meyerson M: Sequence analysis of mutations and translocations across breast cancer subtypes. Nature 2012, 486(7403):405-409[http://dx.doi.org/10.1038/nature11154].
-
(2012)
Nature
, vol.486
, Issue.7403
, pp. 405-409
-
-
Banerji, S.1
Cibulskis, K.2
Rangel-Escareno, C.3
Brown, K.K.4
Carter, S.L.5
Frederick, A.M.6
Lawrence, M.S.7
Sivachenko, A.Y.8
Sougnez, C.9
Zou, L.10
Cortes, M.L.11
Fernandez-Lopez, J.C.12
Peng, S.13
Ardlie, K.G.14
Auclair, D.15
Bautista-Pina, V.16
Duke, F.17
Francis, J.18
Jung, J.19
Maffuz-Aziz, A.20
Onofrio, R.C.21
Parkin, M.22
Pho, N.H.23
Quintanar-Jurado, V.24
Ramos, A.H.25
Rebollar-Vega, R.26
Rodriguez-Cuevas, S.27
Romero-Cordoba, S.L.28
Schumacher, S.E.29
Stransky, N.30
Thompson, K.M.31
Uribe-Figueroa, L.32
Baselga, J.33
Beroukhim, R.34
Polyak, K.35
Sgroi, D.C.36
Richardson, A.L.37
Jimenez-Sanchez, G.38
Lander, E.S.39
Gabriel, S.B.40
Garraway, L.A.41
Golub, T.R.42
Melendez-Zajgla, J.43
Toker, A.44
Getz, G.45
Hidalgo-Miranda, A.46
Meyerson, M.47
more..
-
8
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC: Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 2010, 107(28):12629-12633.
-
(2010)
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
, vol.107
, Issue.28
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
Thornton, A.M.4
Stray, S.M.5
Pennil, C.6
Nord, A.S.7
Mandell, J.B.8
Swisher, E.M.9
King, M.C.10
-
9
-
-
80054751998
-
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers
-
Kumar A, White TA, MacKenzie AP, Clegg N, Lee C, Dumpit RF, Coleman I, Ng SB, Salipante SJ, Rieder MJ, Nickerson DA, Corey E, Lange PH, Morrissey C, Vessella RL, Nelson PS, Shendure J: Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proceedings of the National Academy of Sciences 2011, 108(41):17087-17092[http://www.pnas.org/content/108/41/17087.abstract].
-
(2011)
Proceedings of the National Academy of Sciences
, vol.108
, Issue.41
, pp. 17087-17092
-
-
Kumar, A.1
White, T.A.2
MacKenzie, A.P.3
Clegg, N.4
Lee, C.5
Dumpit, R.F.6
Coleman, I.7
Ng, S.B.8
Salipante, S.J.9
Rieder, M.J.10
Nickerson, D.A.11
Corey, E.12
Lange, P.H.13
Morrissey, C.14
Vessella, R.L.15
Nelson, P.S.16
Shendure, J.17
-
11
-
-
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, Tavare S: CNAseg-a novel framework for identification of copy number changes in cancer from second-generation sequencing data. Bioinformatics 2010, 26(24):3051-3058 [http://bioinformatics.oxfordjournals.org/content/26/24/3051.abstract].
-
(2010)
Bioinformatics
, vol.26
, Issue.24
, pp. 3051-3058
-
-
Ivakhno, S.1
Royce, T.2
Cox, A.J.3
Evers, D.J.4
Cheetham, R.K.5
Tavare, S.6
-
12
-
-
44349191457
-
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
-
Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, Santarius T, Stebbings LA, Leroy C, Edkins S, Hardy C, Teague JW, Menzies A, Goodhead I, Turner DJ, Clee CM, Quail MA, Cox A, Brown C, Durbin R, Hurles ME, Edwards PAW, Bignell GR, Stratton MR, Futreal PA: Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 2008, 40(6):722-729 [http://dx.doi.org/10.1038/ng.128].
-
(2008)
Nat Genet
, 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..
-
13
-
-
69749122557
-
Sensitive and accurate detection of copy number variants using read depth of coverage
-
Yoon S, Xuan Z, Makarov V, Ye K, Sebat J: Sensitive and accurate detection of copy number variants using read depth of coverage. GENOME RESEARCH 2009, 19(9):1586-1592.
-
(2009)
GENOME RESEARCH
, vol.19
, Issue.9
, pp. 1586-1592
-
-
Yoon, S.1
Xuan, Z.2
Makarov, V.3
Ye, K.4
Sebat, J.5
-
14
-
-
64849083125
-
CNV-seq, a new method to detect copy number variation using high-throughput sequencing
-
Xie C, Tammi M: CNV-seq, a new method to detect copy number variation using high-throughput sequencing. BMC Bioinformatics 2009, 10:80[http://www.biomedcentral.com/14712105/10/80].
-
(2009)
BMC Bioinformatics
, Issue.10
, pp. 80
-
-
Xie, C.1
Tammi, M.2
-
15
-
-
84867169585
-
Control-FREEC: a tool for assessing copy number and allelic content using next generation sequencing data
-
Boeva V, Popova T, Bleakley K, Chiche P, Cappo J, Schleiermacher G, Janoueix-Lerosey I, Delattre O, Barillot E: Control-FREEC: a tool for assessing copy number and allelic content using next generation sequencing data. Bioinformatics 2011 [http://bioinformatics.oxfordjournals.org/content/early/2011/12/05/bioinformatics.btr670.abstract].
-
(2011)
Bioinformatics
-
-
Boeva, V.1
Popova, T.2
Bleakley, K.3
Chiche, P.4
Cappo, J.5
Schleiermacher, G.6
Janoueix-Lerosey, I.7
Delattre, O.8
Barillot, E.9
-
16
-
-
79954672317
-
APPLICATIONS OF NEXT-GENERATION SEQUENCING Genome structural variation discovery and genotyping
-
Alkan C, Coe BP, Eichler EE: APPLICATIONS OF NEXT-GENERATION SEQUENCING Genome structural variation discovery and genotyping. NATURE REVIEWS GENETICS 2011, 12(5):363-375.
-
(2011)
NATURE REVIEWS GENETICS
, vol.12
, Issue.5
, pp. 363-375
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
17
-
-
3543105225
-
Circular binary segmentation for the analysis of array-based DNA copy number data
-
Olshen AB, Venkatraman ES, Lucito R, Wigler M: Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 2004, 5(4):557-572[http://biostatistics.oxfordjournals.org/content/ 5/4/557.abstract].
-
(2004)
Biostatistics
, vol.5
, Issue.4
, pp. 557-572
-
-
Olshen, A.B.1
Venkatraman, E.S.2
Lucito, R.3
Wigler, M.4
-
18
-
-
9244229940
-
Hidden Markov models approach to the analysis of array CGH data
-
[¡ce:title¿Special Issue on Multivariate Methods in Genomic Data Analysis¡/ce:title¿].
-
Fridlyand J, Snijders AM, Pinkel D, Albertson DG, Jain AN: Hidden Markov models approach to the analysis of array CGH data. Journal of Multivariate Analysis 2004, 90:132-153[http://www.sciencedirect.com/science/ article/pii/S0047259X04000260], [¡ce:title¿Special Issue on Multivariate Methods in Genomic Data Analysis¡/ce:title¿].
-
(2004)
Journal of Multivariate Analysis
, vol.90
, pp. 132-153
-
-
Fridlyand, J.1
Snijders, A.M.2
Pinkel, D.3
Albertson, D.G.4
Jain, A.N.5
-
19
-
-
84861135980
-
CONTRA: copy number analysis for targeted resequencing
-
Li J, Lupat R, Amarasinghe KC, Thompson ER, Doyle MA, Ryland GL, Tothill RW, Halgamuge SK, Campbell IG, Gorringe KL: CONTRA: copy number analysis for targeted resequencing. Bioinformatics 2012, 28(10):1307-1313[http://bioinformatics.oxfordjournals.org/content/28/10/ 1307.abstract].
-
(2012)
Bioinformatics
, vol.28
, Issue.10
, pp. 1307-1313
-
-
Li, J.1
Lupat, R.2
Amarasinghe, K.C.3
Thompson, E.R.4
Doyle, M.A.5
Ryland, G.L.6
Tothill, R.W.7
Halgamuge, S.K.8
Campbell, I.G.9
Gorringe, K.L.10
-
20
-
-
79953855362
-
Accurate and exact CNV identification from targeted high-throughput sequence data
-
Nord AS, Lee M, King MC, Walsh T: Accurate and exact CNV identification from targeted high-throughput sequence data. BMC GENOMICS 2011, 12.
-
(2011)
BMC GENOMICS
, vol.12
-
-
Nord, A.S.1
Lee, M.2
King, M.C.3
Walsh, T.4
-
21
-
-
82955184653
-
Modeling Read Counts for CNV Detection in Exome Sequencing Data
-
Love A Michael Iand Mysickov ã¡.
-
Sun R, Kalscheuer V, Vingron M, Haas SA: Modeling Read Counts for CNV Detection in Exome Sequencing Data. Statistical Applications in Genetics and Molecular Biology 2011, 10(52)[http://www.bepress.com/sagmb/vol10/ iss1/art52], Love A Michael Iand Mysickov ã¡.
-
(2011)
Statistical Applications in Genetics and Molecular Biology
, vol.10
, Issue.52
-
-
Sun, R.1
Kalscheuer, V.2
Vingron, M.3
Haas, S.A.4
-
22
-
-
84864609288
-
Copy number variation detection and genotyping from exome sequence data
-
Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, NHLBI Exome Sequencing Project N, Quinlan AR, Nickerson DA, Eichler EE: Copy number variation detection and genotyping from exome sequence data. Genome Research 2012 [http://genome.cshlp.org/content/early/2012/05/14/ gr.138115.112.abstract].
-
(2012)
Genome Research
-
-
Krumm, N.1
Sudmant, P.H.2
Ko, A.3
O'Roak, B.J.4
Malig, M.5
Coe, B.P.6
Quinlan, A.R.7
Nickerson, D.A.8
Eichler, E.E.9
-
23
-
-
80053446554
-
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
-
Sathirapongsasuti JF, Lee H, Horst BAJ, Brunner G, Cochran AJ, Binder S, Quackenbush J, Nelson SF: Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics 2011, 27(19):2648-2654[http://bioinformatics.oxfordjournals.org/content/27/ 19/2648.abstract].
-
(2011)
Bioinformatics
, vol.27
, Issue.19
, pp. 2648-2654
-
-
Sathirapongsasuti, J.F.1
Lee, H.2
Horst, B.A.J.3
Brunner, G.4
Cochran, A.J.5
Binder, S.6
Quackenbush, J.7
Nelson, S.F.8
-
24
-
-
84863229597
-
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
-
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L, Wilson RK: VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Research 2012, 22(3):568-576[http://genome.cshlp.org/content/22/3/568.abstract].
-
(2012)
Genome Research
, vol.22
, Issue.3
, pp. 568-576
-
-
Koboldt, D.C.1
Zhang, Q.2
Larson, D.E.3
Shen, D.4
McLellan, M.D.5
Lin, L.6
Miller, C.A.7
Mardis, E.R.8
Ding, L.9
Wilson, R.K.10
-
25
-
-
77951770756
-
BEDTools: a flexible suite of utilities for comparing genomic features
-
Quinlan AR, Hall IM: BEDTools: a flexible suite of utilities for comparing genomic features. BIOINFORMATICS 2010, 26(6):841-842.
-
(2010)
BIOINFORMATICS
, vol.26
, Issue.6
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
26
-
-
0003610422
-
-
(Cambridge Series in Statistical and Probabilistic Mathematics) Cambridge University Press
-
Percival DB, Walden AT: Wavelet Methods for Time Series Analysis (Cambridge Series in Statistical and Probabilistic Mathematics) Cambridge University Press; 2006 [http://www.worldcat.org/isbn/0521685087g].
-
(2006)
Wavelet Methods for Time Series Analysis
-
-
Percival, D.B.1
Walden, A.T.2
-
27
-
-
0024610919
-
A tutorial on hidden Markov models and selected applications in speech recognition
-
Rabiner L: A tutorial on hidden Markov models and selected applications in speech recognition. Proceedings of the IEEE 1989, 77(2):257-286.
-
(1989)
Proceedings of the IEEE
, vol.77
, Issue.2
, pp. 257-286
-
-
Rabiner, L.1
-
29
-
-
22144458387
-
Denoising array-based comparative genomic hybridization data using wavelets
-
Hsu L, Self SG, Grove D, Randolph T, Wang K, Delrow JJ, Loo L, Porter P: Denoising array-based comparative genomic hybridization data using wavelets. Biostatistics 2005, 6(2):211-226[http://biostatistics.oxfordjournals.org/content/6/2/211.abstract].
-
(2005)
Biostatistics
, vol.6
, Issue.2
, pp. 211-226
-
-
Hsu, L.1
Self, S.G.2
Grove, D.3
Randolph, T.4
Wang, K.5
Delrow, J.J.6
Loo, L.7
Porter, P.8
|