-
1
-
-
41249100617
-
High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays
-
Denning L, Anderson JA, Davis R, Gregg JP, Kuzdenyi J, Maselli RA: High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays. PLoS One 2007, 2:e918
-
(2007)
PLoS One
, vol.2
-
-
Denning, L.1
Anderson, J.A.2
Davis, R.3
Gregg, J.P.4
Kuzdenyi, J.5
Maselli, R.A.6
-
2
-
-
44849137662
-
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
-
Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL: A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Hum Mutat 2008, 29:879-885
-
(2008)
Hum Mutat
, vol.29
, pp. 879-885
-
-
Fokstuen, S.1
Lyle, R.2
Munoz, A.3
Gehrig, C.4
Lerch, R.5
Perrot, A.6
Osterziel, K.J.7
Geier, C.8
Beghetti, M.9
Mach, F.10
Sztajzel, J.11
Sigwart, U.12
Antonarakis, S.E.13
Blouin, J.L.14
-
3
-
-
27244455446
-
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform
-
Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R: Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci 2005, 46:3355-3362
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 3355-3362
-
-
Mandal, M.N.1
Heckenlively, J.R.2
Burch, T.3
Chen, L.4
Vasireddy, V.5
Koenekoop, R.K.6
Sieving, P.A.7
Ayyagari, R.8
-
4
-
-
42449107772
-
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy
-
Waldmuller S, Muller M, Rackebrandt K, Binner P, Poths S, Bonin M, Scheffold T: Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. Clin Chem 2008, 54:682-687
-
(2008)
Clin Chem
, vol.54
, pp. 682-687
-
-
Waldmuller, S.1
Muller, M.2
Rackebrandt, K.3
Binner, P.4
Poths, S.5
Bonin, M.6
Scheffold, T.7
-
5
-
-
33748623364
-
An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome
-
Zhou S, Kassauei K, Cutler DJ, Kennedy GC, Sidransky D, Maitra A, Califano J: An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome. J Mol Diagn 2006, 8:476-482
-
(2006)
J Mol Diagn
, vol.8
, pp. 476-482
-
-
Zhou, S.1
Kassauei, K.2
Cutler, D.J.3
Kennedy, G.C.4
Sidransky, D.5
Maitra, A.6
Califano, J.7
-
6
-
-
77952536025
-
A Novel Custom Resequencing Array for Dilated Cardiomyopathy
-
Zimmerman RS, Cox S, Lakdawala N, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH: A Novel Custom Resequencing Array For Dilated Cardiomyopathy. Genet Med 2010, 12:268-278
-
(2010)
Genet Med
, vol.12
, pp. 268-278
-
-
Zimmerman, R.S.1
Cox, S.2
Lakdawala, N.3
Cirino, A.4
Mancini-DiNardo, D.5
Clark, E.6
Leon, A.7
Duffy, E.8
White, E.9
Baxter, S.10
Alaamery, M.11
Farwell, L.12
Weiss, S.13
Seidman, C.E.14
Seidman, J.G.15
Ho, C.Y.16
Rehm, H.L.17
Funke, B.H.18
-
7
-
-
15944384859
-
Microarray-based resequencing of multiple Bacillus anthracis isolates
-
Zwick ME, McAfee F, Cutler DJ, Read TD, Ravel J, Bowman GR, Galloway DR, Mateczun A: Microarray-based resequencing of multiple Bacillus anthracis isolates. Genome Biol 2005, 6:R10
-
(2005)
Genome Biol
, vol.6
-
-
Zwick, M.E.1
McAfee, F.2
Cutler, D.J.3
Read, T.D.4
Ravel, J.5
Bowman, G.R.6
Galloway, D.R.7
Mateczun, A.8
-
8
-
-
34547108086
-
Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana
-
Clark RM, Schweikert G, Toomajian C, Ossowski S, Zeller G, Shinn P, Warthmann N, Hu TT, Fu G, Hinds DA, Chen H, Frazer KA, Huson DH, Scholkopf B, Nordborg M, Ratsch G, Ecker JR, Weigel D: Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana. Science 2007, 317:338-342
-
(2007)
Science
, vol.317
, pp. 338-342
-
-
Clark, R.M.1
Schweikert, G.2
Toomajian, C.3
Ossowski, S.4
Zeller, G.5
Shinn, P.6
Warthmann, N.7
Hu, T.T.8
Fu, G.9
Hinds, D.A.10
Chen, H.11
Frazer, K.A.12
Huson, D.H.13
Scholkopf, B.14
Nordborg, M.15
Ratsch, G.16
Ecker, J.R.17
Weigel, D.18
-
9
-
-
44849134096
-
Detecting polymorphic regions in Arabidopsis thaliana with resequencing microarrays
-
Zeller G, Clark RM, Schneeberger K, Bohlen A, Weigel D, Ratsch G: Detecting polymorphic regions in Arabidopsis thaliana with resequencing microarrays. Genome Res 2008, 18:918-929
-
(2008)
Genome Res
, vol.18
, pp. 918-929
-
-
Zeller, G.1
Clark, R.M.2
Schneeberger, K.3
Bohlen, A.4
Weigel, D.5
Ratsch, G.6
-
10
-
-
52949096084
-
Next-generation DNA sequencing methods
-
Mardis ER: Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 2008, 9:387-402
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 387-402
-
-
Mardis, E.R.1
-
11
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure J, Ji H: Next-generation DNA sequencing. Nature Biotechnol 2008, 26:1135-1145
-
(2008)
Nature Biotechnol
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
12
-
-
72849144434
-
Sequencing technologies - The next generation
-
Metzker ML: Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46
-
(2010)
Nat Rev Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
13
-
-
33750953227
-
Whole-genome re-sequencing
-
Bentley DR: Whole-genome re-sequencing. Curr Opin Genet Dev 2006, 16:545-552
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 545-552
-
-
Bentley, D.R.1
-
14
-
-
24044455869
-
Genome sequencing in microfabricated high-density picolitre reactors
-
Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen Z, Dewell SB, Du L, Fierro JM, Gomes XV, Godwin BC, He W, Helgesen S, Ho CH, Irzyk GP, Jando SC, Alenquer ML, Jarvie TP, Jirage KB, Kim JB, Knight JR, Lanza JR, Leamon JH, Lefkowitz SM, Lei M, Li J, Lohman KL, Lu H, Makhijani VB, McDade KE, McKenna MP, Myers EW, Nickerson E, Nobile JR, Plant R, Puc BP, Ronan MT, Roth GT, Sarkis GJ, Simons JF, Simpson JW, Srinivasan M, Tartaro KR, Tomasz A, Vogt KA, Volkmer GA, Wang SH, Wang Y, Weiner MP, Yu P, Begley RF, Rothberg JM: Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005, 437:376-380
-
(2005)
Nature
, vol.437
, pp. 376-380
-
-
Margulies, M.1
Egholm, M.2
Altman, W.E.3
Attiya, S.4
Bader, J.S.5
Bemben, L.A.6
Berka, J.7
Braverman, M.S.8
Chen, Y.J.9
Chen, Z.10
Dewell, S.B.11
Du, L.12
Fierro, J.M.13
Gomes, X.V.14
Godwin, B.C.15
He, W.16
Helgesen, S.17
Ho, C.H.18
Irzyk, G.P.19
Jando, S.C.20
Alenquer, M.L.21
Jarvie, T.P.22
Jirage, K.B.23
Kim, J.B.24
Knight, J.R.25
Lanza, J.R.26
Leamon, J.H.27
Lefkowitz, S.M.28
Lei, M.29
Li, J.30
Lohman, K.L.31
Lu, H.32
Makhijani, V.B.33
McDade, K.E.34
McKenna, M.P.35
Myers, E.W.36
Nickerson, E.37
Nobile, J.R.38
Plant, R.39
Puc, B.P.40
Ronan, M.T.41
Roth, G.T.42
Sarkis, G.J.43
Simons, J.F.44
Simpson, J.W.45
Srinivasan, M.46
Tartaro, K.R.47
Tomasz, A.48
Vogt, K.A.49
Volkmer, G.A.50
Wang, S.H.51
Wang, Y.52
Weiner, M.P.53
Yu, P.54
Begley, R.F.55
Rothberg, J.M.56
more..
-
15
-
-
24644462173
-
Accurate multiplex polony sequencing of an evolved bacterial genome
-
Shendure J, Porreca GJ, Reppas NB, Lin X, McCutcheon JP, Rosenbaum AM, Wang MD, Zhang K, Mitra RD, Church GM: Accurate multiplex polony sequencing of an evolved bacterial genome. Science 2005, 309:1728-1732
-
(2005)
Science
, vol.309
, pp. 1728-1732
-
-
Shendure, J.1
Porreca, G.J.2
Reppas, N.B.3
Lin, X.4
McCutcheon, J.P.5
Rosenbaum, A.M.6
Wang, M.D.7
Zhang, K.8
Mitra, R.D.9
Church, G.M.10
-
16
-
-
56749098074
-
Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
-
Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ: Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat Genet 2008, 40:1413-1415
-
(2008)
Nat Genet
, vol.40
, pp. 1413-1415
-
-
Pan, Q.1
Shai, O.2
Lee, L.J.3
Frey, B.J.4
Blencowe, B.J.5
-
17
-
-
73449142861
-
DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: Neurofibromatosis type 1 gene as a model
-
Chou LS, Liu CS, Boese B, Zhang X, Mao R: DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model. Clin Chem 2010, 56:62-72
-
(2010)
Clin Chem
, vol.56
, pp. 62-72
-
-
Chou, L.S.1
Liu, C.S.2
Boese, B.3
Zhang, X.4
Mao, R.5
-
18
-
-
74449085934
-
A small-cell lung cancer genome with complex signatures of tobacco exposure
-
Pleasance ED, Stephens PJ, O'Meara S, McBride DJ, Meynert A, Jones D, Lin ML, Beare D, Lau KW, Greenman C, Varela I, Nik-Zainal S, Davies HR, Ordonez GR, Mudie LJ, Latimer C, Edkins S, Stebbings L, Chen L, Jia M, Leroy C, Marshall J, Menzies A, Butler A, Teague JW, Mangion J, Sun YA, McLaughlin SF, Peckham HE, Tsung EF, Costa GL, Lee CC, Minna JD, Gazdar A, Birney E, Rhodes MD, McKernan KJ, Stratton MR, Futreal PA, Campbell PJ: A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 2010, 463:184-190
-
(2010)
Nature
, vol.463
, pp. 184-190
-
-
Pleasance, E.D.1
Stephens, P.J.2
O'Meara, S.3
McBride, D.J.4
Meynert, A.5
Jones, D.6
Lin, M.L.7
Beare, D.8
Lau, K.W.9
Greenman, C.10
Varela, I.11
Nik-Zainal, S.12
Davies, H.R.13
Ordonez, G.R.14
Mudie, L.J.15
Latimer, C.16
Edkins, S.17
Stebbings, L.18
Chen, L.19
Jia, M.20
Leroy, C.21
Marshall, J.22
Menzies, A.23
Butler, A.24
Teague, J.W.25
Mangion, J.26
Sun, Y.A.27
McLaughlin, S.F.28
Peckham, H.E.29
Tsung, E.F.30
Costa, G.L.31
Lee, C.C.32
Minna, J.D.33
Gazdar, A.34
Birney, E.35
Rhodes, M.D.36
McKernan, K.J.37
Stratton, M.R.38
Futreal, P.A.39
Campbell, P.J.40
more..
-
19
-
-
76249100243
-
Next generation sequence analysis for mitochondrial disorders
-
Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH: Next generation sequence analysis for mitochondrial disorders. Genome Med 2009, 1:100
-
(2009)
Genome Med
, vol.1
, pp. 100
-
-
Vasta, V.1
Ng, S.B.2
Turner, E.H.3
Shendure, J.4
Hahn, S.H.5
-
20
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ: Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010, 42:30-35
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
Shendure, J.11
Bamshad, M.J.12
-
21
-
-
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, 461:272-276
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
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
-
22
-
-
55949095205
-
Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics
-
ten Bosch JR, Grody WW: Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J Mol Diagn 2008, 10:484-492
-
(2008)
J Mol Diagn
, vol.10
, pp. 484-492
-
-
Ten Bosch, J.R.1
Grody, W.W.2
-
23
-
-
68249092574
-
Massively parallel sequencing: The next big thing in genetic medicine
-
Tucker T, Marra M, Friedman JM: Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet 2009, 85:142-154
-
(2009)
Am J Hum Genet
, vol.85
, pp. 142-154
-
-
Tucker, T.1
Marra, M.2
Friedman, J.M.3
-
24
-
-
57449093576
-
High-throughput quantitative polymerase chain reaction in picoliter droplets
-
Kiss MM, Ortoleva-Donnelly L, Beer NR, Warner J, Bailey CG, Colston BW, Rothberg JM, Link DR, Leamon JH: High-throughput quantitative polymerase chain reaction in picoliter droplets. Anal Chem 2008, 80:8975-8981
-
(2008)
Anal Chem
, vol.80
, pp. 8975-8981
-
-
Kiss, M.M.1
Ortoleva-Donnelly, L.2
Beer, N.R.3
Warner, J.4
Bailey, C.G.5
Colston, B.W.6
Rothberg, J.M.7
Link, D.R.8
Leamon, J.H.9
-
25
-
-
67649631522
-
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
-
Herman DS, Hovingh GK, Iartchouk O, Rehm HL, Kucherlapati R, Seidman JG, Seidman CE: Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods 2009, 6:507-510
-
(2009)
Nat Methods
, vol.6
, pp. 507-510
-
-
Herman, D.S.1
Hovingh, G.K.2
Iartchouk, O.3
Rehm, H.L.4
Kucherlapati, R.5
Seidman, J.G.6
Seidman, C.E.7
-
26
-
-
66749159688
-
Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing
-
Hodges E, Rooks M, Xuan Z, Bhattacharjee A, Benjamin Gordon D, Brizuela L, Richard McCombie W, Hannon GJ: Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing. Nat Protoc 2009, 4:960-974
-
(2009)
Nat Protoc
, vol.4
, pp. 960-974
-
-
Hodges, E.1
Rooks, M.2
Xuan, Z.3
Bhattacharjee, A.4
Benjamin Gordon, D.5
Brizuela, L.6
Richard McCombie, W.7
Hannon, G.J.8
-
27
-
-
59849113821
-
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
-
Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, Fennell T, Giannoukos G, Fisher S, Russ C, Gabriel S, Jaffe DB, Lander ES, Nusbaum C: Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nature Biotechnol 2009, 27:182-189
-
(2009)
Nature Biotechnol
, vol.27
, pp. 182-189
-
-
Gnirke, A.1
Melnikov, A.2
Maguire, J.3
Rogov, P.4
LeProust, E.M.5
Brockman, W.6
Fennell, T.7
Giannoukos, G.8
Fisher, S.9
Russ, C.10
Gabriel, S.11
Jaffe, D.B.12
Lander, E.S.13
Nusbaum, C.14
-
28
-
-
68249105690
-
Multiplex padlock targeted sequencing reveals human hypermutable CpG variations
-
Li JB, Gao Y, Aach J, Zhang K, Kryukov GV, Xie B, Ahlford A, Yoon JK, Rosenbaum AM, Zaranek AW, LeProust E, Sunyaev SR, Church GM: Multiplex padlock targeted sequencing reveals human hypermutable CpG variations. Genome Res 2009, 19:1606-1615
-
(2009)
Genome Res
, vol.19
, pp. 1606-1615
-
-
Li, J.B.1
Gao, Y.2
Aach, J.3
Zhang, K.4
Kryukov, G.V.5
Xie, B.6
Ahlford, A.7
Yoon, J.K.8
Rosenbaum, A.M.9
Zaranek, A.W.10
LeProust, E.11
Sunyaev, S.R.12
Church, G.M.13
-
29
-
-
35748953750
-
Multiplex amplification of large sets of human exons
-
Porreca GJ, Zhang K, Li JB, Xie B, Austin D, Vassallo SL, LeProust EM, Peck BJ, Emig CJ, Dahl F, Gao Y, Church GM, Shendure J: Multiplex amplification of large sets of human exons. Nat Methods 2007, 4:931-936
-
(2007)
Nat Methods
, vol.4
, pp. 931-936
-
-
Porreca, G.J.1
Zhang, K.2
Li, J.B.3
Xie, B.4
Austin, D.5
Vassallo, S.L.6
LeProust, E.M.7
Peck, B.J.8
Emig, C.J.9
Dahl, F.10
Gao, Y.11
Church, G.M.12
Shendure, J.13
-
30
-
-
65449144325
-
Evaluation of next generation sequencing platforms for population targeted sequencing studies
-
Harismendy O, Ng PC, Strausberg RL, Wang X, Stockwell TB, Beeson KY, Schork NJ, Murray SS, Topol EJ, Levy S, Frazer KA: Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol 2009, 10:R32
-
(2009)
Genome Biol
, vol.10
-
-
Harismendy, O.1
Ng, P.C.2
Strausberg, R.L.3
Wang, X.4
Stockwell, T.B.5
Beeson, K.Y.6
Schork, N.J.7
Murray, S.S.8
Topol, E.J.9
Levy, S.10
Frazer, K.A.11
-
31
-
-
70149096883
-
Droplet microfluidic technology for single-cell high-throughput screening
-
Brouzes E, Medkova M, Savenelli N, Marran D, Twardowski M, Hutchison JB, Rothberg JM, Link DR, Perrimon N, Samuels ML: Droplet microfluidic technology for single-cell high-throughput screening. Proc Natl Acad Sci USA 2009, 106:14195-14200
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 14195-14200
-
-
Brouzes, E.1
Medkova, M.2
Savenelli, N.3
Marran, D.4
Twardowski, M.5
Hutchison, J.B.6
Rothberg, J.M.7
Link, D.R.8
Perrimon, N.9
Samuels, M.L.10
-
32
-
-
36549021060
-
Genome-wide in situ exon capture for selective resequencing
-
Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ, Albert TJ, Hannon GJ, McCombie WR: Genome-wide in situ exon capture for selective resequencing. Nat Genet 2007, 39:1522-1527
-
(2007)
Nat Genet
, vol.39
, pp. 1522-1527
-
-
Hodges, E.1
Xuan, Z.2
Balija, V.3
Kramer, M.4
Molla, M.N.5
Smith, S.W.6
Middle, C.M.7
Rodesch, M.J.8
Albert, T.J.9
Hannon, G.J.10
McCombie, W.R.11
-
33
-
-
78049353821
-
-
Edited by J Kieleczawa. Sudbury, MA, Jones and Bartlett
-
Yang A: Solutions for Sequencing Difficult Regions. Edited by J Kieleczawa. Sudbury, MA, Jones and Bartlett, 2009, pp. 65-90
-
(2009)
Solutions for Sequencing Difficult Regions
, pp. 65-90
-
-
Yang, A.1
-
34
-
-
63949083912
-
Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes
-
Kozarewa I, Ning Z, Quail MA, Sanders MJ, Berriman M, Turner DJ: Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes. Nat Methods 2009, 6:291-295
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(2009)
Nat Methods
, vol.6
, pp. 291-295
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Kozarewa, I.1
Ning, Z.2
Quail, M.A.3
Sanders, M.J.4
Berriman, M.5
Turner, D.J.6
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