-
1
-
-
80053357385
-
Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor
-
Londin, E. R. et al. Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor. BMC Genomics 12, 464 (2011).
-
(2011)
BMC Genomics
, vol.12
, pp. 464
-
-
Londin, E.R.1
-
2
-
-
73349110071
-
Exome sequencing identifies the cause of amendelian disorder
-
Ng, S. B. et al. Exome sequencing identifies the cause of amendelian disorder. Nat Genet 42, 30-5 (2010).
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
-
3
-
-
37749025169
-
Primer: Sequencing-The next generation
-
Rusk, N. & Kiermer, V. Primer: Sequencing-the next generation. NatMethods 5, 15 (2008).
-
(2008)
NatMethods
, vol.5
, pp. 15
-
-
Rusk, N.1
Kiermer, V.2
-
4
-
-
72849144434
-
Sequencing technologies-The next generation
-
Metzker, M. L. Sequencing technologies-the next generation. Nat Rev Genet 11, 31-46 (2010).
-
(2010)
Nat Rev Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
5
-
-
52949096084
-
Next-generation DNA sequencing methods
-
Mardis, E. R. Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 9, 387-402 (2008).
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 387-402
-
-
Mardis, E.R.1
-
6
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by wholegenome sequencing
-
Roach, J. C. et al. Analysis of genetic inheritance in a family quartet by wholegenome sequencing. Science 328, 636-9 (2010).
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
-
7
-
-
77953006634
-
The mutation spectrum revealed by paired genome sequences from a lung cancer patient
-
Lee, W. et al. The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465, 473-7 (2010).
-
(2010)
Nature
, vol.465
, pp. 473-477
-
-
Lee, W.1
-
8
-
-
74449093973
-
A comprehensive catalogue of somatic mutations from a human cancer genome
-
Pleasance, E. D. et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463, 191-6 (2010).
-
(2010)
Nature
, vol.463
, pp. 191-196
-
-
Pleasance, E.D.1
-
9
-
-
77249119762
-
The landscape of somatic copy-number alteration across human cancers
-
Beroukhim, R. et al. The landscape of somatic copy-number alteration across human cancers. Nature 463, 899-905 (2010).
-
(2010)
Nature
, vol.463
, pp. 899-905
-
-
Beroukhim, R.1
-
10
-
-
84862976633
-
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrentmutations in chromatin regulators
-
Fujimoto, A. et al.Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrentmutations in chromatin regulators. Nat Genet 44, 760-4 (2012).
-
(2012)
Nat Genet
, vol.44
, pp. 760-764
-
-
Fujimoto, A.1
-
11
-
-
84861618864
-
Exome sequencing and the genetic basis of complex traits
-
Kiezun, A. et al. Exome sequencing and the genetic basis of complex traits. Nat Genet 44, 623-30 (2012).
-
(2012)
Nat Genet
, vol.44
, pp. 623-630
-
-
Kiezun, A.1
-
12
-
-
73149123343
-
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
-
Choi, M. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 106, 19096-101 (2009).
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 19096-19101
-
-
Choi, M.1
-
13
-
-
79959311118
-
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines
-
Chang, H. et al. Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines. PLoS One 6, e21097 (2011).
-
(2011)
PLoS One
, vol.6
-
-
Chang, H.1
-
14
-
-
85027946522
-
Exome sequencing identifies GRIN2A as frequently mutated in melanoma
-
Wei, X. et al. Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat Genet 43, 442-6 (2011).
-
(2011)
Nat Genet
, vol.43
, pp. 442-446
-
-
Wei, X.1
-
15
-
-
79251635938
-
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
-
Varela, I. et al. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 469, 539-42 (2011).
-
(2011)
Nature
, vol.469
, pp. 539-542
-
-
Varela, I.1
-
16
-
-
80052177544
-
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1
-
Agrawal, N. et al. Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science 333, 1154-7 (2011).
-
(2011)
Science
, vol.333
, pp. 1154-1157
-
-
Agrawal, N.1
-
17
-
-
83855165105
-
Repetitive DNA and next-generation sequencing: Computational challenges and solutions
-
Treangen, T. J. & Salzberg, S. L. Repetitive DNA and next-generation sequencing: computational challenges and solutions. Nat Rev Genet 13, 36-46 (2012).
-
(2012)
Nat Rev Genet
, vol.13
, pp. 36-46
-
-
Treangen, T.J.1
Salzberg, S.L.2
-
18
-
-
78049321495
-
Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing
-
Fujimoto, A. et al.Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing. Nat Genet 42, 931-6 (2010).
-
(2010)
Nat Genet
, vol.42
, pp. 931-936
-
-
Fujimoto, A.1
-
19
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H.& Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-60 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
20
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-9 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
-
21
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12, 745-55 (2011).
-
(2011)
Nat Rev Genet
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
-
22
-
-
79957967458
-
Natural genetic variation caused by small insertions and deletions in the human genome
-
Mills, R. E. et al.Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res 21, 830-9 (2011).
-
(2011)
Genome Res
, vol.21
, pp. 830-839
-
-
Mills, R.E.1
-
23
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20, 1297-303 (2010).
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
-
24
-
-
0031955518
-
Base-calling of automated sequencer traces using phred. I. Accuracy assessment
-
Ewing, B., Hillier, L., Wendl, M. C. & Green, P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 8, 175-85 (1998). (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
-
25
-
-
43149107930
-
Quality scores and SNP detection in sequencing-by-synthesis systems
-
DOI 10.1101/gr.070227.107
-
Brockman, W. et al.Quality scores and SNP detection in sequencing-by-synthesis systems. Genome Res 18, 763-70 (2008). (Pubitemid 351645066)
-
(2008)
Genome Research
, vol.18
, Issue.5
, pp. 763-770
-
-
Brockman, W.1
Alvarez, P.2
Young, S.3
Garber, M.4
Giannoukos, G.5
Lee, W.L.6
Russ, C.7
Lander, E.S.8
Nusbaum, C.9
Jaffe, D.B.10
-
26
-
-
4944244942
-
Adjust quality scores from alignment and improve sequencing accuracy
-
DOI 10.1093/nar/gkh850
-
Li, M., Nordborg, M. & Li, L. M. Adjust quality scores from alignment and improve sequencing accuracy. Nucleic Acids Res 32, 5183-91 (2004). (Pubitemid 39445505)
-
(2004)
Nucleic Acids Research
, vol.32
, Issue.17
, pp. 5183-5191
-
-
Li, M.1
Nordborg, M.2
Li, L.M.3
-
27
-
-
84855593661
-
An integrative variant analysis suite for whole exome nextgeneration sequencing data
-
Challis, D. et al. An integrative variant analysis suite for whole exome nextgeneration sequencing data. BMC Bioinformatics 13, 8 (2012).
-
(2012)
BMC Bioinformatics
, vol.13
, Issue.8
-
-
Challis, D.1
-
28
-
-
84872111619
-
Next generation sequence analysis and computational genomics using graphical pipeline workflows
-
Torri, F. et al. Next Generation Sequence Analysis and Computational Genomics Using Graphical Pipeline Workflows. Genes (Basel) 3, 545-575 (2012).
-
(2012)
Genes (Basel)
, vol.3
, pp. 545-575
-
-
Torri, F.1
-
29
-
-
0033555906
-
Tandem repeats finder: A program to analyze DNA sequences
-
DOI 10.1093/nar/27.2.573
-
Benson, G. Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res 27, 573-80 (1999). (Pubitemid 29210025)
-
(1999)
Nucleic Acids Research
, vol.27
, Issue.2
, pp. 573-580
-
-
Benson, G.1
-
30
-
-
79960914105
-
Inference of human population history from individual wholegenome sequences
-
Li, H.& Durbin, R. Inference of human population history from individual wholegenome sequences. Nature 475, 493-6 (2011). Technology
-
(2011)
Nature
, vol.475
, pp. 493-496
-
-
Li, H.1
Durbin, R.2
|