-
1
-
-
33751545322
-
Automating resequencing-based detection of insertion-deletion polymorphisms
-
DOI 10.1038/ng1925, PII NG1925
-
Bhangale, T.R., Stephens, M. and Nickerson, D.A. (2006) Automating resequencing-based detection of insertion-deletion polymorphisms. Nat. Genet., 38, 1457-1462. (Pubitemid 44837571)
-
(2006)
Nature Genetics
, vol.38
, Issue.12
, pp. 1457-1462
-
-
Bhangale, T.R.1
Stephens, M.2
Nickerson, D.A.3
-
2
-
-
24344505990
-
Microdeletions and microinsertions causing human genetic disease: Common mechanisms of mutagenesis and the role of local DNA sequence complexity
-
DOI 10.1002/humu.20212
-
Ball, E.V., Stenson, P.D., Abeysinghe, S.S., Krawczak, M., Cooper, D.N. and Chuzhanova, NA. (2005) Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum. Mutat., 26, 205-213. (Pubitemid 41254376)
-
(2005)
Human Mutation
, vol.26
, Issue.3
, pp. 205-213
-
-
Ball, E.V.1
Stenson, P.D.2
Abeysinghe, S.S.3
Krawczak, M.4
Cooper, D.N.5
Chuzhanova, N.A.6
-
3
-
-
0023061372
-
Alternative splicing: A ubiquitous mechanism for the generation of multiple protein isoforms from single genes
-
Breitbart, R.E., Andreadis, A. and Nadal-Ginard, B. (1987) Alternative splicing: a ubiquitous mechanism for the generation of multiple protein isoforms from single genes. Annu. Rev. Biochem., 56, 467-495.
-
(1987)
Annu. Rev. Biochem.
, vol.56
, pp. 467-495
-
-
Breitbart, R.E.1
Andreadis, A.2
Nadal-Ginard, B.3
-
4
-
-
4944241489
-
Intron retention is a major phenomenon in alternative splicing in Arabidopsis
-
DOI 10.1111/j.1365-313X.2004.02172.x
-
Ner-Gaon, H., Halachmi, R., Savaldi-Goldstein, S., Rubin, E., Ophir, R. and Fluhr, R. (2004) Intron retention is a major phenomenon in alternative splicing in Arabidopsis. Plant J., 39, 877-885. (Pubitemid 39320560)
-
(2004)
Plant Journal
, vol.39
, Issue.6
, pp. 877-885
-
-
Ner-Gaon, H.1
Halachmi, R.2
Savaldi-Goldstein, S.3
Rubin, E.4
Ophir, R.5
Fluhr, R.6
-
5
-
-
50949105626
-
A general definition and nomenclature for alternative splicing events
-
Sammeth, M., Foissac, S. and Guigo, R. (2008) A general definition and nomenclature for alternative splicing events. PLoS Comput. Biol., 4, e1000147.
-
(2008)
PLoS Comput. Biol.
, vol.4
-
-
Sammeth, M.1
Foissac, S.2
Guigo, R.3
-
6
-
-
51349126920
-
Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing
-
Campbell, P.J., Pleasance, E.D., Stephens, P.J., Dicks, E., Rance, R., Goodhead, I., Follows, GA., Green, A.R., Futreal, PA. and Stratton, M.R. (2008) Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing. Proc Natl Acad. Sci. USA, 105, 13081-13086.
-
(2008)
Proc Natl Acad. Sci. USA
, vol.105
, pp. 13081-13086
-
-
Campbell, P.J.1
Pleasance, E.D.2
Stephens, P.J.3
Dicks, E.4
Rance, R.5
Goodhead, I.6
Follows, G.A.7
Green, A.R.8
Futreal, P.A.9
Stratton, M.R.10
-
7
-
-
54549094903
-
Somatic mutations affect key pathways in lung adenocarcinoma
-
Ding, L., Getz, G, Wheeler, DA., Mardis, E.R., McLellan, M.D., Cibulskis, K., Sougnez, C., Greulich, H., Muzny, D.M., Morgan, M.B. et al. (2008) Somatic mutations affect key pathways in lung adenocarcinoma. Nature, 455, 1069-1075.
-
(2008)
Nature
, vol.455
, pp. 1069-1075
-
-
Ding, L.1
Getz, G.2
Wheeler, D.A.3
Mardis, E.R.4
McLellan, M.D.5
Cibulskis, K.6
Sougnez, C.7
Greulich, H.8
Muzny, D.M.9
Morgan, M.B.10
-
8
-
-
64749094310
-
The cancer genome
-
Stratton, M.R., Campbell, P.J. and Futreal, PA. (2009) The cancer genome. Nature, 458, 719-724.
-
(2009)
Nature
, vol.458
, pp. 719-724
-
-
Stratton, M.R.1
Campbell, P.J.2
Futreal, P.A.3
-
10
-
-
77950083955
-
Heteroplasmic mitochondrial DNA mutations in normal and tumour cells
-
He, Y., Wu, J., Dressman, D.C., Iacobuzio-Donahue, C., Markowitz, S.D., Velculescu, V.E., Diaz, LA. Jr, Kinzler, K.W., Vogelstein, B. and Papadopoulos, N. (2010) Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. Nature, 464, 610-614.
-
(2010)
Nature
, vol.464
, pp. 610-614
-
-
He, Y.1
Wu, J.2
Dressman, D.C.3
Iacobuzio-Donahue, C.4
Markowitz, S.D.5
Velculescu, V.E.6
Diaz Jr., L.A.7
Kinzler, K.W.8
Vogelstein, B.9
Papadopoulos, N.10
-
11
-
-
33747160762
-
Heteroplasmy as a common state of mitochondrial genetic information in plants and animals
-
DOI 10.1007/s00294-006-0082-1
-
Kmiec, B., Woloszynska, M. and Janska, H. (2006) Heteroplasmy as a common state of mitochondrial genetic information in plants and animals. Curr. Genet., 50, 149-159. (Pubitemid 44227695)
-
(2006)
Current Genetics
, vol.50
, Issue.3
, pp. 149-159
-
-
Kmiec, B.1
Woloszynska, M.2
Janska, H.3
-
12
-
-
42449103989
-
Coordination of gene expression between organellar and nuclear genomes
-
DOI 10.1038/nrg2348, PII NRG2348
-
Woodson, J.D. and Chory, J. (2008) Coordination of gene expression between organellar and nuclear genomes. Nat. Rev. Genet., 9, 383-395. (Pubitemid 351559601)
-
(2008)
Nature Reviews Genetics
, vol.9
, Issue.5
, pp. 383-395
-
-
Woodson, J.D.1
Chory, J.2
-
13
-
-
6344225539
-
Different methods to determine length heteroplasmy within the mitochondrial control region
-
DOI 10.1007/s00414-004-0457-0
-
Lutz-Bonengel, S., Sanger, T., Pollak, S. and Szibor, R. (2004) Different methods to determine length heteroplasmy within the mitochondrial control region. Int. J. Legal Med., 118, 274-281. (Pubitemid 39390313)
-
(2004)
International Journal of Legal Medicine
, vol.118
, Issue.5
, pp. 274-281
-
-
Lutz-Bonengel, S.1
Sanger, T.2
Pollak, S.3
Szibor, R.4
-
14
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure, J. and Ji, H. (2008) Next-generation DNA sequencing. Nat. Biotechnol., 26, 1135-1145.
-
(2008)
Nat. Biotechnol.
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
15
-
-
77954714458
-
Primer-initiated sequence synthesis to detect and assemble structural variants
-
Massouras, A., Hens, K., Carine, G., Uplekar, S., Decouttere, F., Rougemont, J., Cole, S.T. and Deplancke, B. (2010) Primer-initiated sequence synthesis to detect and assemble structural variants. Nat. Methods, 7, 485-486.
-
(2010)
Nat. Methods
, vol.7
, pp. 485-486
-
-
Massouras, A.1
Hens, K.2
Carine, G.3
Uplekar, S.4
Decouttere, F.5
Rougemont, J.6
Cole, S.T.7
Deplancke, B.8
-
16
-
-
34248170222
-
PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing data
-
DOI 10.1101/gr.6151507
-
Chen, K., McLellan, M.D., Ding, L., Wendl, M.C., Kasai, Y., Wilson, R.K. and Mardis, E.R. (2007) PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data. Genome Res., 17, 659-666. (Pubitemid 46715517)
-
(2007)
Genome Research
, vol.17
, Issue.5
, pp. 659-666
-
-
Chen, K.1
McLellan, M.D.2
Ding, L.3
Wendl, M.C.4
Kasai, Y.5
Wilson, R.K.6
Mardis, E.R.7
-
17
-
-
34547830420
-
AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes
-
DOI 10.1093/bioinformatics/btm152
-
Dicks, E., Teague, J.W., Stephens, P., Raine, K., Yates, A., Mattocks, C., Tarpey, P., Butler, A., Menzies, A., Richardson, D. et al. (2007) AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. Bioinformatics, 23, 1689-1691. (Pubitemid 47244460)
-
(2007)
Bioinformatics
, vol.23
, Issue.13
, pp. 1689-1691
-
-
Dicks, E.1
Teague, J.W.2
Stephens, P.3
Raine, K.4
Yates, A.5
Mattocks, C.6
Tarpey, P.7
Butler, A.8
Menzies, A.9
Richardson, D.10
Jenkinson, A.11
Davies, H.12
Edkins, S.13
Forbes, S.14
Gray, K.15
Greenman, C.16
Shepherd, R.17
Stratton, M.R.18
Futreal, P.A.19
Wooster, R.20
more..
-
18
-
-
48249149566
-
Decoding of superimposed traces produced by direct sequencing of heterozygous indels
-
Dmitriev, DA. and Rakitov, RA. (2008) Decoding of superimposed traces produced by direct sequencing of heterozygous indels. PLoS Comput. Biol., 4, e1000113.
-
(2008)
PLoS Comput. Biol.
, vol.4
-
-
Dmitriev, D.A.1
Rakitov, R.A.2
-
19
-
-
58749096552
-
PolyPhred analysis software for mutation detection from fluorescence-based sequence data
-
Chapter 7, Unit
-
Montgomery, K.T., Iartchouck, O., Li, L., Loomis, S., Obourn, V. and Kucherlapati, R. (2008) PolyPhred analysis software for mutation detection from fluorescence-based sequence data. Curr. Protoc Hum. Genet., Chapter 7, Unit 7 16.
-
(2008)
Curr. Protoc Hum. Genet.
, vol.7
, pp. 16
-
-
Montgomery, K.T.1
Iartchouck, O.2
Li, L.3
Loomis, S.4
Obourn, V.5
Kucherlapati, R.6
-
20
-
-
0036678354
-
ShiftDetector: Detection of shift mutations
-
Seroussi, E., Ron, M. and Kedra, D. (2002) ShiftDetector: detection of shift mutations. Bioinformatics, 18, 1137-1138. (Pubitemid 34919237)
-
(2002)
Bioinformatics
, vol.18
, Issue.8
, pp. 1137-1138
-
-
Seroussi, E.1
Ron, M.2
Kedra, D.3
-
21
-
-
33846884632
-
A tale of two templates: Automatically resolving double traces has many applications, including efficient PCR-based elucidation of alternative splices
-
DOI 10.1101/gr.5661407
-
Tenney, A.E., Wu, J.Q., Langton, L., Klueh, P., Quatrano, R. and Brent, M.R. (2007) A tale of two templates: automatically resolving double traces has many applications, including efficient PCR-based elucidation of alternative splices. Genome Res., 17, 212-218. (Pubitemid 46220766)
-
(2007)
Genome Research
, vol.17
, Issue.2
, pp. 212-218
-
-
Tenney, A.E.1
Jia, Q.W.2
Langton, L.3
Klueh, P.4
Quatrano, R.5
Brent, M.R.6
-
22
-
-
0019887799
-
Identification of common molecular subsequences
-
Smith, T.F. and Waterman, M.S. (1981) Identification of common molecular subsequences. J. Mol. Biol., 147, 195-197.
-
(1981)
J. Mol. Biol.
, vol.147
, pp. 195-197
-
-
Smith, T.F.1
Waterman, M.S.2
-
23
-
-
0025950944
-
Searching protein sequence libraries: Comparison of the sensitivity and selectivity of the Smith-Waterman and FASTA algorithms
-
Pearson, W.R. (1991) Searching protein sequence libraries: comparison of the sensitivity and selectivity of the Smith-Waterman and FASTA algorithms. Genomics, 11, 635-650.
-
(1991)
Genomics
, vol.11
, pp. 635-650
-
-
Pearson, W.R.1
-
24
-
-
0031955518
-
Base-calling of automated sequencer traces using phred. I. Accuracy assessment
-
Ewing, B., Hillier, L., Wendl, M.C. and Green, P. (1998) Base-calling of automated sequencer 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
-
25
-
-
0036648997
-
Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA
-
Falkenberg, M., Gaspari, M., Rantanen, A., Trifunovic, A., Larsson, N.G and Gustafsson, C.M. (2002) Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. Nat. Genet., 31, 289-294.
-
(2002)
Nat. Genet.
, vol.31
, pp. 289-294
-
-
Falkenberg, M.1
Gaspari, M.2
Rantanen, A.3
Trifunovic, A.4
Larsson, N.G.5
Gustafsson, C.M.6
-
26
-
-
67149136517
-
Ancient mtDNA genetic variants modulate mtDNA transcription and replication
-
Suissa, S., Wang, Z., Poole, J., Wittkopp, S., Feder, J., Shutt, T.E., Wallace, D.C., Shadel, GS. and Mishmar, D. (2009) Ancient mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Genet., 5, e1000474.
-
(2009)
PLoS Genet.
, vol.5
-
-
Suissa, S.1
Wang, Z.2
Poole, J.3
Wittkopp, S.4
Feder, J.5
Shutt, T.E.6
Wallace, D.C.7
Shadel, G.S.8
Mishmar, D.9
-
27
-
-
57649166523
-
VarDetect: A nucleotide sequence variation exploratory tool
-
Ngamphiw, C., Kulawonganunchai, S., Assawamakin, A., Jenwitheesuk, E. and Tongsima, S. (2008) VarDetect: a nucleotide sequence variation exploratory tool. BMC Bioinformatics, 9(Suppl. 12), S9.
-
(2008)
BMC Bioinformatics
, vol.9
, Issue.SUPPL. 12
-
-
Ngamphiw, C.1
Kulawonganunchai, S.2
Assawamakin, A.3
Jenwitheesuk, E.4
Tongsima, S.5
|