-
1
-
-
67349209853
-
Next-generation DNA sequencing techniques
-
Ansorge, W.J. (2009) Next-generation DNA sequencing techniques. New Biotechnol., 25, 195-203.
-
(2009)
New Biotechnol
, vol.25
, pp. 195-203
-
-
Ansorge, W.J.1
-
2
-
-
78149439208
-
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome
-
Bonnefond, A. et al. (2010) Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PloS One, 5, e13630.
-
(2010)
PloS One
, vol.5
-
-
Bonnefond, A.1
-
3
-
-
77956393882
-
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
-
Gilissen, C. et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am. J. Hum. Genet., 87, 418-423.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 418-423
-
-
Gilissen, C.1
-
4
-
-
77951957381
-
SNVMix: predicting single nucleotide variants from nextgeneration sequencing of tumors
-
Goya, R. et al. (2010) SNVMix: predicting single nucleotide variants from nextgeneration sequencing of tumors. Bioinformatics, 26, 730-736.
-
(2010)
Bioinformatics
, vol.26
, pp. 730-736
-
-
Goya, R.1
-
5
-
-
78649700287
-
Frequent mutation of BAP1 in metastasizing uveal melanomas
-
Harbour, J.W. et al. (2010) Frequent mutation of BAP1 in metastasizing uveal melanomas, Science, 330, 1410-1413.
-
(2010)
Science
, vol.330
, pp. 1410-1413
-
-
Harbour, J.W.1
-
6
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P. et al. (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protocol., 4, 1073-1081.
-
(2009)
Nat. Protocol.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
-
7
-
-
62349130698
-
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
-
Langmead, B. et al. (2009) Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol, 10, R25.
-
(2009)
Genome Biol
, vol.10
-
-
Langmead, B.1
-
8
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H. and Durbin, R. (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25, 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
9
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski, J.R. et al. (2010) Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New Engl. J. Med., 362, 1181-1191.
-
(2010)
New Engl. J. Med.
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
-
10
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A. 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
-
11
-
-
72849144434
-
Sequencing technologies - the next generation
-
Metzker, M.L. (2010) Sequencing technologies - the next generation. Nature Rev., 11, 31-46.
-
(2010)
Nature Rev.
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
12
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng, S.B. et al. (2009) Targeted capture and massively parallel sequencing of 12 human exomes, Nature, 461, 272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
-
13
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng, S.B. et al. (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet., 42, 30-35.
-
(2010)
Nat. Genet.
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
-
14
-
-
77956486125
-
Next generation tools for genomic data generation, distribution, and visualization
-
Nix, D.A. et al. (2010) Next generation tools for genomic data generation, distribution, and visualization. BMC Bioinformatics, 11, 455.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 455
-
-
Nix, D.A.1
-
15
-
-
78651271733
-
Integrative genomics viewer
-
Robinson, J.T. et al. (2011) Integrative genomics viewer. Nat. Biotechnol., 29, 24-26.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 24-26
-
-
Robinson, J.T.1
-
16
-
-
78650580271
-
GAMES identifies and annotates mutations in next-generation sequencing projects
-
Sana, M.E. et al. (2011) GAMES identifies and annotates mutations in next-generation sequencing projects. Bioinformatics, 27, 9-13.
-
(2011)
Bioinformatics
, vol.27
, pp. 9-13
-
-
Sana, M.E.1
-
17
-
-
37749031255
-
Next-generation sequencing transforms today's biology
-
Schuster, S.C. (2008) Next-generation sequencing transforms today's biology. Nat. Methods, 5, 16-18.
-
(2008)
Nat. Methods
, vol.5
, pp. 16-18
-
-
Schuster, S.C.1
-
18
-
-
77956640112
-
SeqAnt: a web service to rapidly identify and annotate DNA sequence variations
-
Shetty, A.C. et al. (2010) SeqAnt: a web service to rapidly identify and annotate DNA sequence variations. BMC Bioinformatics, 11, 471.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 471
-
-
Shetty, A.C.1
-
19
-
-
77956534324
-
ANNOVAR: functional annotation of genetic variants from highthroughput sequencing data
-
Wang, K. et al. (2010)ANNOVAR: functional annotation of genetic variants from highthroughput sequencing data. Nucleic Acids Res., 38, e164.
-
(2010)
Nucleic Acids Res.
, vol.38
-
-
Wang, K.1
|