-
1
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley, D.R., Balasubramanian, S., Swerdlow, H.P., et al. 2008. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
-
2
-
-
0033060905
-
Bayesian restoration of a Hidden Markov chain with applications to DNA sequencing
-
Churchill, G.A., and Lazareva, B. 1999. Bayesian restoration of a hidden Markov chain with applications to DNA sequencing. J. Comput. Biol. 6, 261-277. (Pubitemid 29321437)
-
(1999)
Journal of Computational Biology
, vol.6
, Issue.2
, pp. 261-277
-
-
Churchill, G.A.1
Lazareva, B.2
-
3
-
-
0026753344
-
The accuracy of DNA sequences: Estimating sequence quality
-
Churchill, G.A., and Waterman, M.S. 1992. The accuracy of DNA sequences: estimating sequence quality. Genomics 14, 89-98.
-
(1992)
Genomics
, vol.14
, pp. 89-98
-
-
Churchill, G.A.1
Waterman, M.S.2
-
4
-
-
41949131367
-
Consensus generation and variant detection by Celera Assembler
-
DOI 10.1093/bioinformatics/btn074
-
Denisov, G., Walenz, B., Halpern, A.L., et al. 2008. Consensus generation and variant detection by Celera Assembler. Bioinformatics 24. 1035-1040. (Pubitemid 351514052)
-
(2008)
Bioinformatics
, vol.24
, Issue.8
, pp. 1035-1040
-
-
Denisov, G.1
Walenz, B.2
Halpern, A.L.3
Miller, J.4
Axelrod, N.5
Levy, S.6
Sutton, G.7
-
5
-
-
79955483667
-
A framework for variation discovery and genotyping using nextgeneration DNA sequencing data
-
DePristo, M.A., Banks, E., Poplin, R., et al. 2011. A framework for variation discovery and genotyping using nextgeneration DNA sequencing data. Nat. Genet. 43, 491-498.
-
(2011)
Nat. Genet.
, vol.43
, pp. 491-498
-
-
Depristo, M.A.1
Banks, E.2
Poplin, R.3
-
6
-
-
74949138753
-
Human genome sequencing using unchained base reads on selfassembling DNA nanoarrays
-
Drmanac, R., Sparks, A.B., Callow, M.J., et al. 2010. Human genome sequencing using unchained base reads on selfassembling DNA nanoarrays. Science 327, 78-81.
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
-
7
-
-
0031955518
-
Base-calling of automated sequencer traces using phred. I. Accuracy assessment
-
Ewing, B., Hillier, L., Wendl, M.C., et al. 1998. Base calling of automated sequence traces using PHRED. I. Accuracy assessment. Genome Res. 8, 175-185. (Pubitemid 28177229)
-
(1998)
Genome Research
, vol.8
, Issue.3
, pp. 175-185
-
-
Ewing, B.1
Hillier, L.2
Wendl, M.C.3
Green, P.4
-
8
-
-
70449701942
-
Sense from sequence reads: Methods for alignment and assembly
-
Flicek, P., and Birney, E. 2009. Sense from sequence reads: methods for alignment and assembly. Nat. Methods 6, S6-S12.
-
(2009)
Nat. Methods
, vol.6
-
-
Flicek, P.1
Birney, E.2
-
9
-
-
34347376733
-
Diploid genome reconstruction of Ciona intestinalis and comparative analysis with Ciona savignyi
-
DOI 10.1101/gr.5894107
-
Kim, J.H., Waterman, M.S., and Li, L.M. 2007. Diploid genome reconstruction of Ciona intestinalis and comparative analysis with Ciona savignyi. Genome Res. 17, 1101-1110. (Pubitemid 47026357)
-
(2007)
Genome Research
, vol.17
, Issue.7
, pp. 1101-1110
-
-
Jong, H.K.1
Waterman, M.S.2
Li, L.M.3
-
10
-
-
77953006634
-
The mutation spectrum revealed by paired genome sequences from a lung cancer patient
-
Lee, W., Jiang, Z., Liu, J., et al. 2010. The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465, 473-477.
-
(2010)
Nature
, vol.465
, pp. 473-477
-
-
Lee, W.1
Jiang, Z.2
Liu, J.3
-
11
-
-
55549101623
-
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
-
Ley, T.J., Mardis, E.R., Ding, L., et al. 2008. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456, 66-72.
-
(2008)
Nature
, vol.456
, pp. 66-72
-
-
Ley, T.J.1
Mardis, E.R.2
Ding, L.3
-
12
-
-
55549097836
-
Mapping short DNA sequencing reads and calling variants using mapping quality scores
-
Li, H., Ruan, J., and Durbin, R. 2008. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 18, 1851-1858.
-
(2008)
Genome Res.
, vol.18
, pp. 1851-1858
-
-
Li, H.1
Ruan, J.2
Durbin, R.3
-
13
-
-
77957272611
-
A survey of sequence alignment algorithms for next-generation sequencing
-
Li, H., and Homer, N. 2010. A survey of sequence alignment algorithms for next-generation sequencing. Brief. Bioinform. 11, 473-483.
-
(2010)
Brief. Bioinform.
, vol.11
, pp. 473-483
-
-
Li, H.1
Homer, N.2
-
14
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie- Tooth neuropathy
-
Lupski, J.R., Reid, J.G., Gonzaga-Jauregui, C., et al. 2010. Whole-genome sequencing in a patient with Charcot-Marie- Tooth neuropathy. N. Engl. J. Med. 362, 1181-1191.
-
(2010)
N. Engl. J. Med.
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
-
15
-
-
0032706623
-
A general approach to single-nucleotide polymorphism discovery
-
Marth, G.T., Korf, I., Yandell, M.D., et al. 1999. A general approach to single-nucleotide polymorphism discovery. Nat. Genet. 23, 452-456.
-
(1999)
Nat. Genet.
, vol.23
, pp. 452-456
-
-
Marth, G.T.1
Korf, I.2
Yandell, M.D.3
-
16
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A., Hanna, M., Banks, E., et al. 2010. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303.
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
-
17
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
McKernan, K.J., Peckham, H.E., Costa, G.L., et al. 2009. Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res. 19, 1527-1541.
-
(2009)
Genome Res.
, vol.19
, pp. 1527-1541
-
-
McKernan, K.J.1
Peckham, H.E.2
Costa, G.L.3
-
18
-
-
79952186533
-
Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics
-
Moore, B., Hu, H., Singleton, M., et al. 2011. Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics. Genet. Med. 13, 210-217.
-
(2011)
Genet. Med.
, vol.13
, pp. 210-217
-
-
Moore, B.1
Hu, H.2
Singleton, M.3
-
19
-
-
0035859921
-
An Eulerian path approach to DNA fragment assembly
-
DOI 10.1073/pnas.171285098
-
Pevzner, P.A., Tang, H., and Waterman, M.S. 2001. An Eulerian path approach to DNA fragment assembly. Proc. Natl. Acad. Sci. USA 98, 9748-9753. (Pubitemid 32769375)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.17
, pp. 9748-9753
-
-
Pevzner, P.A.1
Tang, H.2
Waterman, M.S.3
-
20
-
-
77958469483
-
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
-
Rios, J., Stein, E., Shendure, J., et al. 2010. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum. Mol. Genet. 19, 4313-4318.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4313-4318
-
-
Rios, J.1
Stein, E.2
Shendure, J.3
-
21
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach, J.C., Glusman, G., Smit, A.F., et al. 2010. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328, 636-639.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
-
22
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang, J., Wang, W., Li, R., et al. 2008. The diploid genome sequence of an Asian individual. Nature 456, 60-65.
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
Wang, W.2
Li, R.3
-
23
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
The 1000 Genomes Project Consortium
-
The 1000 Genomes Project Consortium. 2010. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
|