-
1
-
-
79951970227
-
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
-
Abyzov, A. et al. (2011) CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res., 21, 974-984
-
(2011)
Genome Res
, vol.21
, pp. 974-984
-
-
Abyzov, A.1
-
2
-
-
84925381165
-
Comparative analysis of methods for identifying somatic copy number alterations from deep sequencing data
-
Alkodsi, A., et al. (2014) Comparative analysis of methods for identifying somatic copy number alterations from deep sequencing data. Briefings Bioinformatics, 16, 242-254
-
(2014)
Briefings Bioinformatics
, vol.16
, pp. 242-254
-
-
Alkodsi, A.1
-
3
-
-
77249119762
-
The landscape of somatic copy-number alteration across human cancers
-
Beroukhim, R. et al. (2010) The landscape of somatic copy-number alteration across human cancers. Nature, 463, 899-905
-
(2010)
Nature
, vol.463
, pp. 899-905
-
-
Beroukhim, R.1
-
4
-
-
84856561659
-
Control-FREEC: A tool for assessing copy number and allelic content using next-generation sequencing data
-
Boeva, V. et al. (2012) Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. Bioinformatics, 28, 423-425
-
(2012)
Bioinformatics
, vol.28
, pp. 423-425
-
-
Boeva, V.1
-
5
-
-
78651430230
-
Control-free calling of copy number alterations in deepsequencing data using GC-content normalization
-
Boeva, V. et al. (2011) Control-free calling of copy number alterations in deepsequencing data using GC-content normalization. Bioinformatics, 27, 268-269
-
(2011)
Bioinformatics
, vol.27
, pp. 268-269
-
-
Boeva, V.1
-
6
-
-
69549116107
-
BreakDancer: An algorithm for high-resolution mapping of genomic structural variation
-
Chen, K. et al. (2009) BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat. Methods, 6, 677-681
-
(2009)
Nat. Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
-
7
-
-
58149218240
-
High-resolution mapping of copy-number alterations with massively parallel sequencing
-
Chiang, D.Y. et al. (2009) High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat. Methods, 6, 99-103
-
(2009)
Nat. Methods
, vol.6
, pp. 99-103
-
-
Chiang, D.Y.1
-
8
-
-
84874025843
-
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
-
Cibulskis, K. et al. (2013) Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat. Biotechnol., 31, 213-219
-
(2013)
Nat. Biotechnol
, vol.31
, pp. 213-219
-
-
Cibulskis, K.1
-
9
-
-
84862776906
-
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
-
Ding, L. et al. (2012) Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature, 481, 506-510
-
(2012)
Nature
, vol.481
, pp. 506-510
-
-
Ding, L.1
-
10
-
-
84868032982
-
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain
-
Evrony, G.D. et al. (2012) Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell, 151, 483-496
-
(2012)
Cell
, vol.151
, pp. 483-496
-
-
Evrony, G.D.1
-
11
-
-
84863393080
-
Intratumor heterogeneity and branched evolution revealed by multiregion sequencing
-
Gerlinger, M. et al. (2012) Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. New Engl. J. Med., 366, 883-892
-
(2012)
New Engl. J. Med
, vol.366
, pp. 883-892
-
-
Gerlinger, M.1
-
12
-
-
84856013431
-
Clonal evolution in cancer
-
Greaves, M. and Maley, C.C. (2012) Clonal evolution in cancer. Nature, 481, 306-313
-
(2012)
Nature
, vol.481
, pp. 306-313
-
-
Greaves, M.1
Maley, C.C.2
-
13
-
-
84880286574
-
De novo mutations in the genome organizer CTCF cause intellectual disability
-
Gregor, A. et al. (2013) De novo mutations in the genome organizer CTCF cause intellectual disability. Am. J. Hum. Genet., 93, 124-131
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 124-131
-
-
Gregor, A.1
-
14
-
-
84904247696
-
Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing
-
Helman, E. et al. (2014) Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing. Genome Res., 24, 1053-1063
-
(2014)
Genome Res
, vol.24
, pp. 1053-1063
-
-
Helman, E.1
-
15
-
-
84907313347
-
Somatic mutations in cerebral cortical malformations
-
Jamuar, S.S. et al. (2014) Somatic mutations in cerebral cortical malformations. New Engl. J. Med., 371, 733-743
-
(2014)
New Engl. J. Med
, vol.371
, pp. 733-743
-
-
Jamuar, S.S.1
-
16
-
-
0036226603
-
BLAT-the BLAST-like alignment tool
-
Kent, W.J. (2002) BLAT-the BLAST-like alignment tool. Genome Res., 12, 656-664
-
(2002)
Genome Res
, vol.12
, pp. 656-664
-
-
Kent, W.J.1
-
17
-
-
84892970354
-
Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls
-
Kim, J. et al. (2014) Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls. Scientif. Rep., 4, 3807
-
(2014)
Scientif. Rep
, vol.4
, pp. 3807
-
-
Kim, J.1
-
18
-
-
84883063871
-
Virmid: Accurate detection of somatic mutations with sample impurity inference
-
Kim, S. et al. (2013) Virmid: accurate detection of somatic mutations with sample impurity inference. Genome Biol., 14, R90
-
(2013)
Genome Biol
, vol.14
, pp. R90
-
-
Kim, S.1
-
19
-
-
84863229597
-
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
-
Koboldt, D.C. et al. (2012) VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res., 22, 568-576
-
(2012)
Genome Res
, vol.22
, pp. 568-576
-
-
Koboldt, D.C.1
-
20
-
-
84867722841
-
COPS: A sensitive and accurate tool for detecting somatic copy number alterations using short-read sequence data from paired samples
-
Krishnan, N.M. et al. (2012) COPS: a sensitive and accurate tool for detecting somatic copy number alterations using short-read sequence data from paired samples. PLoS One, 7, e47812
-
(2012)
PLoS One
, vol.7
, pp. e47812
-
-
Krishnan, N.M.1
-
21
-
-
84865285978
-
Landscape of somatic retrotransposition in human cancers
-
Lee, E. et al. (2012) Landscape of somatic retrotransposition in human cancers. Science, 337, 967-971
-
(2012)
Science
, vol.337
, pp. 967-971
-
-
Lee, E.1
-
22
-
-
84864402732
-
De novo somatic mutations in components of the PI3KAKT3-mTOR pathway cause hemimegalencephaly
-
Lee, J.H. et al. (2012) De novo somatic mutations in components of the PI3KAKT3-mTOR pathway cause hemimegalencephaly. Nat. Genet., 44, 941-945
-
(2012)
Nat. Genet
, vol.44
, pp. 941-945
-
-
Lee, J.H.1
-
23
-
-
77949587649
-
Fast and accurate long-read alignment with Burrows-Wheeler transform
-
Li, H. and Durbin, R. (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics, 26, 589-595
-
(2010)
Bioinformatics
, vol.26
, pp. 589-595
-
-
Li, H.1
Durbin, R.2
-
24
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li, H. et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics, 25, 2078-2079
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
-
25
-
-
84931090578
-
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
-
Lim, J.S. et al. (2015) Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Nat. Med., 21, 395-400
-
(2015)
Nat. Med
, vol.21
, pp. 395-400
-
-
Lim, J.S.1
-
26
-
-
62049085786
-
Transcriptome sequencing to detect gene fusions in cancer
-
Maher, C.A. et al. (2009) Transcriptome sequencing to detect gene fusions in cancer. Nature, 458, 97-101
-
(2009)
Nature
, vol.458
, pp. 97-101
-
-
Maher, C.A.1
-
27
-
-
84856988681
-
GemSIM: General, error-model based simulator of next-generation sequencing data
-
McElroy, K.E. et al. (2012) GemSIM: general, error-model based simulator of next-generation sequencing data. BMC Genomics, 13, 74
-
(2012)
BMC Genomics
, vol.13
, pp. 74
-
-
McElroy, K.E.1
-
28
-
-
79955166265
-
GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers
-
Mermel, C.H. et al. (2011) GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. Genome Biol., 12, R41
-
(2011)
Genome Biol
, vol.12
, pp. R41
-
-
Mermel, C.H.1
-
29
-
-
84868130720
-
Extensive genetic variation in somatic human tissues
-
O'Huallachain, M. et al. (2012) Extensive genetic variation in somatic human tissues. Proc. Natl. Acad. Sci. USA, 109, 18018-18023
-
(2012)
Proc. Natl. Acad. Sci. USA
, vol.109
, pp. 18018-18023
-
-
O'Huallachain, M.1
-
31
-
-
84859646140
-
Somatic activation of AKT3 causes hemispheric developmental brain malformations
-
Poduri, A. et al. (2012) Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron, 74, 41-48
-
(2012)
Neuron
, vol.74
, pp. 41-48
-
-
Poduri, A.1
-
32
-
-
84879756120
-
Somatic mutation, genomic variation, and neurological disease
-
Poduri, A. et al. (2013) Somatic mutation, genomic variation, and neurological disease. Science, 341, 1237758
-
(2013)
Science
, vol.341
, pp. 1237758
-
-
Poduri, A.1
-
33
-
-
84866440781
-
DELLY: Structural variant discovery by integrated paired-end and split-read analysis
-
Rausch, T. et al. (2012) DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics, 28, i333-i339
-
(2012)
Bioinformatics
, vol.28
, pp. i333-i339
-
-
Rausch, T.1
-
34
-
-
84859249611
-
JointSNVMix: A probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data
-
Roth, A. et al. (2012) JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data. Bioinformatics, 28, 907-913
-
(2012)
Bioinformatics
, vol.28
, pp. 907-913
-
-
Roth, A.1
-
35
-
-
84877957142
-
Sturge-Weber syndrome and port-wine stains caused by somaticmutation in GNAQ
-
Shirley, M.D. et al. (2013) Sturge-Weber syndrome and port-wine stains caused by somaticmutation in GNAQ. New Engl. J. Med., 368, 1971-1979
-
(2013)
New Engl. J. Med
, vol.368
, pp. 1971-1979
-
-
Shirley, M.D.1
-
36
-
-
83855165105
-
Repetitive DNA and next-generation sequencing: Computational challenges and solutions
-
Treangen, T.J. and Salzberg, S.L. (2012) Repetitive DNA and next-generation sequencing: computational challenges and solutions. Nat. Rev. Genet., 13, 36-46
-
(2012)
Nat. Rev. Genet
, vol.13
, pp. 36-46
-
-
Treangen, T.J.1
Salzberg, S.L.2
-
37
-
-
84893406680
-
BIC-seq: A fast algorithm for detection of copy number alterations based on high-throughput sequencing data
-
Xi, R. et al. (2010) BIC-seq: a fast algorithm for detection of copy number alterations based on high-throughput sequencing data. Genome Biol., 11(Suppl 1), O10.
-
(2010)
Genome Biol.
, vol.11
, pp. O10
-
-
Xi, R.1
|