-
2
-
-
0016800090
-
A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase
-
Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol 1975;94:441-8.
-
(1975)
J Mol Biol
, vol.94
, pp. 441-448
-
-
Sanger, F.1
Coulson, A.R.2
-
4
-
-
24044455869
-
Genome sequencing in microfabricated high-density picolitre reactors
-
Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005;437: 376-80.
-
(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
-
5
-
-
28844463698
-
Emerging technologies in DNA sequencing
-
Metzker ML. Emerging technologies in DNA sequencing. Genome Res 2005;15:1767-76.
-
(2005)
Genome Res
, vol.15
, pp. 1767-1776
-
-
Metzker, M.L.1
-
6
-
-
39649117755
-
The impact of next-generation sequencing technology on genetics
-
Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet 2008;24:133-41.
-
(2008)
Trends Genet
, vol.24
, pp. 133-141
-
-
Mardis, E.R.1
-
7
-
-
37749031255
-
Next-generation sequencing transforms today's biology
-
Schuster SC. Next-generation sequencing transforms today's biology. Nat Methods 2008;5:16-8.
-
(2008)
Nat Methods
, vol.5
, pp. 16-18
-
-
Schuster, S.C.1
-
8
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008; 452:872-6.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
-
10
-
-
80054746492
-
Exome sequencing as a tool for mendelian disease gene discovery
-
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for mendelian disease gene discovery. Nat Rev Genet 2011;12:745-55.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
Tabor, H.K.4
Emond, M.J.5
Nickerson, D.A.6
Shendure, J.7
-
11
-
-
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
-
12
-
-
64149123778
-
Nextgeneration sequencing: From basic research to diagnostics
-
Voelkerding KV, Dames SA, Durtschi JD. Nextgeneration sequencing: from basic research to diagnostics. Clin Chem 2009;55:641-58.
-
(2009)
Clin Chem
, vol.55
, pp. 641-658
-
-
Voelkerding, K.V.1
Dames, S.A.2
Durtschi, J.D.3
-
13
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367:1921-9.
-
(2012)
N Engl J Med
, vol.367
, pp. 1921-1929
-
-
De Ligt, J.1
Willemsen, M.H.2
Van Bon, B.W.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
-
14
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380:1674-82.
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
Wieczorek, D.2
Graf, E.3
Wieland, T.4
Endele, S.5
Schwarzmayr, T.6
-
15
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011;43:585-9.
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
O'roak, B.J.1
Deriziotis, P.2
Lee, C.3
Vives, L.4
Schwartz, J.J.5
Girirajan, S.6
-
16
-
-
84887617035
-
A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
-
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, et al. A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013.
-
(2013)
Hum Mutat
-
-
Neveling, K.1
Feenstra, I.2
Gilissen, C.3
Hoefsloot, L.H.4
Kamsteeg, E.J.5
Mensenkamp, A.R.6
-
17
-
-
84884533101
-
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: A national collaborative study of Dutch genome diagnostic laboratories
-
Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Bruggenwirth HT, Lekanne Deprez RH, et al. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum Mutat 2013;34:1313-21.
-
(2013)
Hum Mutat
, vol.34
, pp. 1313-1321
-
-
Weiss, M.M.1
Van Der Zwaag, B.2
Jongbloed, J.D.3
Vogel, M.J.4
Bruggenwirth, H.T.5
Lekanne Deprez, R.H.6
-
18
-
-
84857691276
-
Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer
-
Jiang Q, Turner T, Sosa MX, Rakha A, Arnold S, Chakravarti A. Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer. Hum Mut 2012;33:281-9.
-
(2012)
Hum Mut
, vol.33
, pp. 281-289
-
-
Jiang, Q.1
Turner, T.2
Sosa, M.X.3
Rakha, A.4
Arnold, S.5
Chakravarti, A.6
-
19
-
-
84860756398
-
Performance comparison of benchtop high-throughput sequencing platforms
-
Loman NJ, Misra RV, Dallman TJ, Constantinidou C, Gharbia SE, Wain J, Pallen MJ. Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol 2012;30:434-9.
-
(2012)
Nat Biotechnol
, vol.30
, pp. 434-439
-
-
Loman, N.J.1
Misra, R.V.2
Dallman, T.J.3
Constantinidou, C.4
Gharbia, S.E.5
Wain, J.6
Pallen, M.J.7
-
20
-
-
84879813568
-
Towards clinical molecular diagnosis of inherited cardiac conditions: A comparison of benchtop genome DNA sequencers
-
Li X, Buckton AJ, Wilkinson SL, John S, Walsh R, Novotny T, et al. Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of benchtop genome DNA sequencers. PloS One 2013;8: e67744.
-
(2013)
PloS One
, vol.8
, pp. e67744
-
-
Li, X.1
Buckton, A.J.2
Wilkinson, S.L.3
John, S.4
Walsh, R.5
Novotny, T.6
-
22
-
-
84883897500
-
ACMG clinical laboratory standards for next-generation sequencing
-
Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med 2013;15:733-47.
-
(2013)
Genet Med
, vol.15
, pp. 733-747
-
-
Rehm, H.L.1
Bale, S.J.2
Bayrak-Toydemir, P.3
Berg, J.S.4
Brown, K.K.5
Deignan, J.L.6
-
23
-
-
84866564536
-
Improving indel detection specificity of the ion torrent PGM benchtop sequencer
-
Yeo ZX, Chan M, Yap YS, Ang P, Rozen S, Lee AS. Improving indel detection specificity of the ion torrent PGM benchtop sequencer. PloS One 2012;7:e45798.
-
(2012)
PloS One
, vol.7
, pp. e45798
-
-
Yeo, Z.X.1
Chan, M.2
Yap, Y.S.3
Ang, P.4
Rozen, S.5
Lee, A.S.6
-
24
-
-
84864920004
-
Comparison of next-generation sequencing systems
-
Liu L, Li Y, Li S, Hu N, He Y, Pong R, et al. Comparison of next-generation sequencing systems. J Biomed Biotechnol 2012;2012:251364.
-
(2012)
J Biomed Biotechnol
, vol.2012
, pp. 251364
-
-
Liu, L.1
Li, Y.2
Li, S.3
Hu, N.4
He, Y.5
Pong, R.6
-
25
-
-
84876933570
-
Shining a light on dark sequencing: Characterising errors in Ion Torrent PG Mdata
-
Bragg LM, Stone G, Butler MK, Hugenholtz P, Tyson GW. Shining a light on dark sequencing: characterising errors in Ion Torrent PG Mdata. PLoS Comput Biol 2013; 9:e1003031.
-
(2013)
PLoS Comput Biol
, vol.9
, pp. e1003031
-
-
Bragg, L.M.1
Stone, G.2
Butler, M.K.3
Hugenholtz, P.4
Tyson, G.W.5
-
26
-
-
84871448593
-
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
-
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012;338:1619-22.
-
(2012)
Science
, vol.338
, pp. 1619-1622
-
-
O'roak, B.J.1
Vives, L.2
Fu, W.3
Egertson, J.D.4
Stanaway, I.B.5
Phelps, I.G.6
-
27
-
-
84877108149
-
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
-
Hiatt JB, Pritchard CC, Salipante SJ, O'Roak BJ, Shendure J. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res 2013;23:843-54.
-
(2013)
Genome Res
, vol.23
, pp. 843-854
-
-
Hiatt, J.B.1
Pritchard, C.C.2
Salipante, S.J.3
O'roak, B.J.4
Shendure, J.5
-
28
-
-
84889054428
-
Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using Haloplex target enrichment
-
Berglund EC, Lindqvist CM, Hayat S, Overnas E, Henriksson N, Nordlund J, et al. Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using Haloplex target enrichment. BMC Genomics 2013;14:856.
-
(2013)
BMC Genomics
, vol.14
, pp. 856
-
-
Berglund, E.C.1
Lindqvist, C.M.2
Hayat, S.3
Overnas, E.4
Henriksson, N.5
Nordlund, J.6
|