-
1
-
-
84859430859
-
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
-
J.B. Rivière, et al., "De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome," Nat Genet, vol. 44, pp. 440-444, 2012.
-
(2012)
Nat Genet
, vol.44
, pp. 440-444
-
-
Rivière, J.B.1
-
2
-
-
84865180558
-
NGS Catalog: A database of next generation sequencing studies in humans
-
J. Xia, Q. Wang, P. Jia, B. Wang, W. Pao, and Z. Zhao, "NGS Catalog: A database of next generation sequencing studies in humans," Hum Mut, vol. 33, pp. E2341-2355, 2012.
-
(2012)
Hum Mut
, vol.33
-
-
Xia, J.1
Wang, Q.2
Jia, P.3
Wang, B.4
Pao, W.5
Zhao, Z.6
-
3
-
-
84859249611
-
JointSNVMix: A probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data
-
A. Roth, et al., "JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data," Bioinformatics, vol.28, pp. 907-913, 2012.
-
(2012)
Bioinformatics
, vol.28
, pp. 907-913
-
-
Roth, A.1
-
4
-
-
84877795199
-
-
MuTech, https://confluence.broadinstitute.org/display/CGATools/ MuTect#MuTect-Example, 2012.
-
(2012)
MuTech
-
-
-
5
-
-
84856565531
-
SomaticSniper: Identification of somatic point mutations in whole genome sequencing data
-
D. E. Larson, et al., "SomaticSniper: identification of somatic point mutations in whole genome sequencing data," Bioinformatics, vol.28, pp. 311-317, 2012.
-
(2012)
Bioinformatics
, vol.28
, pp. 311-317
-
-
Larson, D.E.1
-
6
-
-
84864153492
-
Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs
-
C. T. Saunders, W. S. Wong, S. Swamy, J. Becq, L. J. Murray, and R. K. Cheetham, "Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs," Bioinformatics, vol.28, pp. 1811-1817, 2012.
-
(2012)
Bioinformatics
, vol.28
, pp. 1811-1817
-
-
Saunders, C.T.1
Wong, W.S.2
Swamy, S.3
Becq, J.4
Murray, L.J.5
Cheetham, R.K.6
-
7
-
-
84863229597
-
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
-
D.C. Koboldt, et al., "VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing," Genome Res, vol.22, pp. 568-576, 2012.
-
(2012)
Genome Res
, vol.22
, pp. 568-576
-
-
Koboldt, D.C.1
-
8
-
-
77951957381
-
SNVMix: Predicting single nucleotide variants from next generation sequencing of tumors
-
R. Goya, et al., "SNVMix: predicting single nucleotide variants from next generation sequencing of tumors," Bioinformatics, vol.26, pp. 730-736, 2010.
-
(2010)
Bioinformatics
, vol.26
, pp. 730-736
-
-
Goya, R.1
-
9
-
-
84861729132
-
pIRS: Profile based Illumina pair-end Reads Simulator
-
X. Hu, et al., "pIRS: Profile based Illumina pair-end Reads Simulator," Bioinformatics, vol.28, pp. 1533-1535, 2012.
-
(2012)
Bioinformatics
, vol.28
, pp. 1533-1535
-
-
Hu, X.1
-
10
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler Transform
-
H. Li, and R. Durbin, "Fast and accurate short read alignment with Burrows-Wheeler Transform," Bioinformatics, vol.25, pp. 1754-1760, 2009.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
11
-
-
77956295988
-
The Genome Analysis Toolkit: A Map Reduce framework for analyzing next-generation DNA sequencing data
-
A. McKenna, et al., "The Genome Analysis Toolkit: A Map Reduce framework for analyzing next-generation DNA sequencing data," Genome Res, vol.20, pp. 1297-1303, 2010.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
-
12
-
-
68549104404
-
The Sequence alignment/map (SAM) format and SAMtools
-
H. Li, et al., "The Sequence alignment/map (SAM) format and SAMtools," Bioinformatics, vol.25, pp. 2078-2079, 2009.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
-
13
-
-
84856080112
-
Feature-based classifiers for somatic mutation detection in tumour-normal paired sequencing data
-
J. Ding, et al., "Feature-based classifiers for somatic mutation detection in tumour-normal paired sequencing data," Bioinformatics, vol.28, pp. 167-175, 2011.
-
(2011)
Bioinformatics
, vol.28
, pp. 167-175
-
-
Ding, J.1
|