-
1
-
-
84940543237
-
Clinical cancer genomic analysis: data engineering required
-
Doig K, Papenfuss AT, Fox S. Clinical cancer genomic analysis: data engineering required. Lancet Oncol. 2015;16:1015-7. doi: 10.1016/S1470-2045(15)00195-3.
-
(2015)
Lancet Oncol.
, vol.16
, pp. 1015-1017
-
-
Doig, K.1
Papenfuss, A.T.2
Fox, S.3
-
2
-
-
84928215463
-
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients
-
Wong SQ, Fellowes A, Doig K, Ellul J, Bosma TJ, Irwin D, et al. Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients. Br J Cancer. 2015;112:1411-20. doi: 10.1038/bjc.2015.80.
-
(2015)
Br J Cancer.
, vol.112
, pp. 1411-1420
-
-
Wong, S.Q.1
Fellowes, A.2
Doig, K.3
Ellul, J.4
Bosma, T.J.5
Irwin, D.6
-
3
-
-
85018533160
-
-
Accessed 19 Apr 2017.
-
NATA. http://www.nata.com.au. Accessed 19 Apr 2017.
-
-
-
-
4
-
-
84896371874
-
Detection of circulating tumor DNA in early- and late-stage human malignancies
-
Bettegowda C, Sausen M, Leary RJ, Kinde I, Wang Y, Agrawal N, et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med. 2014;6:224ra224. doi: 10.1126/scitranslmed.3007094.
-
(2014)
Sci Transl Med
, vol.6
, pp. 224ra224
-
-
Bettegowda, C.1
Sausen, M.2
Leary, R.J.3
Kinde, I.4
Wang, Y.5
Agrawal, N.6
-
5
-
-
85018601899
-
-
Accessed 19 Apr 2017.
-
Interactive_Biosoftware. Alamut Visual. 2016. http://www.interactive-biosoftware.com/alamut-visual/. Accessed 19 Apr 2017.
-
(2016)
Alamut Visual
-
-
-
6
-
-
85018537101
-
-
Accessed 19 Apr 2017.
-
Agilent. Cartagenia. 2016. http://www.agilent.com/en-us/promotions/cartagenia-overview. Accessed 19 Apr 2017.
-
(2016)
Cartagenia
-
-
-
7
-
-
85018547189
-
-
Accessed 19 Apr 2017.
-
QIAGEN. CLC Genomics Workbench. 2016. https://www.qiagenbioinformatics.com/products/clc-genomics-workbench/. Accessed 19 Apr 2017.
-
(2016)
CLC Genomics Workbench
-
-
-
8
-
-
85017185704
-
-
Accessed 19 Apr 2017.
-
QIAGEN. Ingenuity. 2016. https://www.qiagenbioinformatics.com/products/ingenuity-variant-analysis/. Accessed 19 Apr 2017.
-
(2016)
Ingenuity
-
-
-
9
-
-
85018598897
-
-
Accessed 19 Apr 2017.
-
Illumina. Variant Studio. 2016. http://www.illumina.com/informatics/research/biological-data-interpretation/variantstudio.html. Accessed 19 Apr 2017.
-
(2016)
Variant Studio
-
-
-
10
-
-
79955002343
-
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing
-
Aronson SJ, Clark EH, Babb LJ, Baxter S, Farwell LM, Funke BH, et al. The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing. Hum Mutat. 2011;32:532-6. doi: 10.1002/humu.21470.
-
(2011)
Hum Mutat.
, vol.32
, pp. 532-536
-
-
Aronson, S.J.1
Clark, E.H.2
Babb, L.J.3
Baxter, S.4
Farwell, L.M.5
Funke, B.H.6
-
11
-
-
84963732845
-
VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files
-
Hart SN, Duffy P, Quest DJ, Hossain A, Meiners MA, Kocher JP. VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files. Brief Bioinform. 2016;17:346-51. doi: 10.1093/bib/bbv051.
-
(2016)
Brief Bioinform.
, vol.17
, pp. 346-351
-
-
Hart, S.N.1
Duffy, P.2
Quest, D.J.3
Hossain, A.4
Meiners, M.A.5
Kocher, J.P.6
-
12
-
-
85038130105
-
BrowseVCF: a web-based application and workflow to quickly prioritize disease-causative variants in VCF files
-
Salatino S, Ramraj V. BrowseVCF: a web-based application and workflow to quickly prioritize disease-causative variants in VCF files. Brief Bioinform. 2016. doi: 10.1093/bib/bbw054.
-
(2016)
Brief Bioinform
-
-
Salatino, S.1
Ramraj, V.2
-
13
-
-
84866002291
-
The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data
-
Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012;2:401-4. doi: 10.1158/2159-8290.CD-12-0095.
-
(2012)
Cancer Discov.
, vol.2
, pp. 401-404
-
-
Cerami, E.1
Gao, J.2
Dogrusoz, U.3
Gross, B.E.4
Sumer, S.O.5
Aksoy, B.A.6
-
14
-
-
84971602748
-
Exploring genomic alteration in pediatric cancer using ProteinPaint
-
Zhou X, Edmonson MN, Wilkinson MR, Patel A, Wu G, Liu Y, et al. Exploring genomic alteration in pediatric cancer using ProteinPaint. Nat Genet. 2016;48:4-6. doi: 10.1038/ng.3466.
-
(2016)
Nat Genet.
, vol.48
, pp. 4-6
-
-
Zhou, X.1
Edmonson, M.N.2
Wilkinson, M.R.3
Patel, A.4
Wu, G.5
Liu, Y.6
-
15
-
-
85018539425
-
VariantGrid: Drag and Drop Variant Analysis. Poster at Australian Genomics Technologies Association Conference
-
Melbourne: 12-15 October
-
Lawrence DM, Feng J, Schreiber AW, Geoghegan J. VariantGrid: Drag and Drop Variant Analysis. Poster at Australian Genomics Technologies Association Conference. Melbourne: 12-15 October 2014.
-
(2014)
-
-
Lawrence, D.M.1
Feng, J.2
Schreiber, A.W.3
Geoghegan, J.4
-
16
-
-
84978032269
-
Interactive exploration, analysis and visualization of complex phenome-genome datasets with ASPIREdb
-
Tan PP, Rogic S, Zoubarev A, McDonald C, Liu F, Charathsandran G, et al. Interactive exploration, analysis and visualization of complex phenome-genome datasets with ASPIREdb. Hum Mutat. 2016;37:719-26. doi: 10.1002/humu.23011.
-
(2016)
Hum Mutat.
, vol.37
, pp. 719-726
-
-
Tan, P.P.1
Rogic, S.2
Zoubarev, A.3
McDonald, C.4
Liu, F.5
Charathsandran, G.6
-
17
-
-
84865543515
-
Gemma: a resource for the reuse, sharing and meta-analysis of expression profiling data
-
Zoubarev A, Hamer KM, Keshav KD, McCarthy EL, Santos JR, Van Rossum T, et al. Gemma: a resource for the reuse, sharing and meta-analysis of expression profiling data. Bioinformatics. 2012;28:2272-3. doi: 10.1093/bioinformatics/bts430.
-
(2012)
Bioinformatics.
, vol.28
, pp. 2272-2273
-
-
Zoubarev, A.1
Hamer, K.M.2
Keshav, K.D.3
McCarthy, E.L.4
Santos, J.R.5
Rossum, T.6
-
18
-
-
84928397005
-
ClinSeK: a targeted variant characterization framework for clinical sequencing
-
Zhou W, Zhao H, Chong Z, Mark RJ, Eterovic AK, Meric-Bernstam F, et al. ClinSeK: a targeted variant characterization framework for clinical sequencing. Genome Med. 2015;7:34. doi: 10.1186/s13073-015-0155-1.
-
(2015)
Genome Med.
, vol.7
, pp. 34
-
-
Zhou, W.1
Zhao, H.2
Chong, Z.3
Mark, R.J.4
Eterovic, A.K.5
Meric-Bernstam, F.6
-
19
-
-
84905646484
-
Translational research platforms integrating clinical and omics data: a review of publicly available solutions
-
Canuel V, Rance B, Avillach P, Degoulet P, Burgun A. Translational research platforms integrating clinical and omics data: a review of publicly available solutions. Brief Bioinform. 2015;16:280-90. doi: 10.1093/bib/bbu006.
-
(2015)
Brief Bioinform.
, vol.16
, pp. 280-290
-
-
Canuel, V.1
Rance, B.2
Avillach, P.3
Degoulet, P.4
Burgun, A.5
-
20
-
-
84905642719
-
Bioinformatics for precision medicine in oncology: principles and application to the SHIVA clinical trial
-
Servant N, Romejon J, Gestraud P, La Rosa P, Lucotte G, Lair S, et al. Bioinformatics for precision medicine in oncology: principles and application to the SHIVA clinical trial. Front Genet. 2014;5:152. doi: 10.3389/fgene.2014.00152.
-
(2014)
Front Genet.
, vol.5
, pp. 152
-
-
Servant, N.1
Romejon, J.2
Gestraud, P.3
Rosa, P.4
Lucotte, G.5
Lair, S.6
-
21
-
-
84925357033
-
GeneMed: an informatics hub for the coordination of next-generation sequencing studies that support precision oncology clinical trials
-
Zhao Y, Polley EC, Li MC, Lih CJ, Palmisano A, Sims DJ, et al. GeneMed: an informatics hub for the coordination of next-generation sequencing studies that support precision oncology clinical trials. Cancer Inform. 2015;14:45-55. doi: 10.4137/CIN.S17282.
-
(2015)
Cancer Inform.
, vol.14
, pp. 45-55
-
-
Zhao, Y.1
Polley, E.C.2
Li, M.C.3
Lih, C.J.4
Palmisano, A.5
Sims, D.J.6
-
22
-
-
79954997174
-
LOVD v. 2.0: the next generation in gene variant databases
-
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. LOVD v. 2.0: the next generation in gene variant databases. Hum Mutat. 2011;32:557-63. doi: 10.1002/humu.21438.
-
(2011)
Hum Mutat
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.1
Taschner, P.E.2
Schaafsma, G.C.3
Celli, J.4
Laros, J.F.5
Dunnen, J.T.6
-
23
-
-
22844452823
-
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
-
Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat. 2005;26:63-8. doi: 10.1002/humu.20201.
-
(2005)
Hum Mutat.
, vol.26
, pp. 63-68
-
-
Fokkema, I.F.1
Dunnen, J.T.2
Taschner, P.E.3
-
24
-
-
84978864803
-
FamPipe: an automatic analysis pipeline for analyzing sequencing data in families for disease studies
-
Chung RH, Tsai WY, Kang CY, Yao PJ, Tsai HJ, Chen CH. FamPipe: an automatic analysis pipeline for analyzing sequencing data in families for disease studies. PLoS Comput Biol. 2016;12, e1004980. doi: 10.1371/journal.pcbi.1004980.
-
(2016)
PLoS Comput Biol.
, vol.12
-
-
Chung, R.H.1
Tsai, W.Y.2
Kang, C.Y.3
Yao, P.J.4
Tsai, H.J.5
Chen, C.H.6
-
25
-
-
84880800567
-
GEMINI: integrative exploration of genetic variation and genome annotations
-
Paila U, Chapman BA, Kirchner R, Quinlan AR. GEMINI: integrative exploration of genetic variation and genome annotations. PLoS Comput Biol. 2013;9, e1003153. doi: 10.1371/journal.pcbi.1003153.
-
(2013)
PLoS Comput Biol.
, vol.9
-
-
Paila, U.1
Chapman, B.A.2
Kirchner, R.3
Quinlan, A.R.4
-
26
-
-
85011275698
-
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
-
Griffith, M. et al. CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer. Nat Genet. 2017;49:170-174. doi: 10.1038/ng.3774.
-
(2017)
Nat Genet.
, vol.49
, pp. 170-174
-
-
Griffith, M.1
-
27
-
-
84881612402
-
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data
-
Bean LJ, Tinker SW, da Silva C, Hegde MR. Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum Mutat. 2013;34:1183-8. doi: 10.1002/humu.22364.
-
(2013)
Hum Mutat.
, vol.34
, pp. 1183-1188
-
-
Bean, L.J.1
Tinker, S.W.2
Silva, C.3
Hegde, M.R.4
-
28
-
-
84890328625
-
SeqReporter: automating next-generation sequencing result interpretation and reporting workflow in a clinical laboratory
-
Roy S, Durso MB, Wald A, Nikiforov YE, Nikiforova MN. SeqReporter: automating next-generation sequencing result interpretation and reporting workflow in a clinical laboratory. J Mol Diagn. 2014;16:11-22. doi: 10.1016/j.jmoldx.2013.08.005.
-
(2014)
J Mol Diagn.
, vol.16
, pp. 11-22
-
-
Roy, S.1
Durso, M.B.2
Wald, A.3
Nikiforov, Y.E.4
Nikiforova, M.N.5
-
29
-
-
84885143916
-
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record
-
Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, et al. A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med. 2013;15:824-32. doi: 10.1038/gim.2013.120.
-
(2013)
Genet Med.
, vol.15
, pp. 824-832
-
-
Tarczy-Hornoch, P.1
Amendola, L.2
Aronson, S.J.3
Garraway, L.4
Gray, S.5
Grundmeier, R.W.6
-
30
-
-
85018533238
-
-
VCF Variant Call. Format. Accessed 19 Apr 2017.
-
VCF Variant Call. Format http://www.1000genomes.org/wiki/Analysis/variant-call-format. Accessed 19 Apr 2017.
-
-
-
-
31
-
-
85018568372
-
-
Accessed 19 Apr 2017.
-
MariaDB. https://mariadb.org/. Accessed 19 Apr 2017.
-
-
-
-
32
-
-
84901604272
-
Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing
-
Wong SQ, Li J, Vedururu R, Pang JM, Do H, Ellul J, et al. Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genet. 2014;7:23. doi: 10.1186/1755-8794-7-23.
-
(2014)
BMC Med Genet.
, vol.7
, pp. 23
-
-
Wong, S.Q.1
Li, J.2
Vedururu, R.3
Pang, J.M.4
Do, H.5
Ellul, J.6
-
33
-
-
84887555902
-
Massively-parallel sequencing assists the diagnosis and guided treatment of cancers of unknown primary
-
Tothill RW, Li J, Mileshkin L, Doig K, Siganakis T, Cowin P, et al. Massively-parallel sequencing assists the diagnosis and guided treatment of cancers of unknown primary. J Pathol. 2013;231:413-23. doi: 10.1002/path.4251.
-
(2013)
J Pathol.
, vol.231
, pp. 413-423
-
-
Tothill, R.W.1
Li, J.2
Mileshkin, L.3
Doig, K.4
Siganakis, T.5
Cowin, P.6
-
34
-
-
84977262759
-
"Cancer 2015": a prospective, population-based cancer cohort-phase 1: Feasibility of genomics-guided precision medicine in the clinic
-
Parisot JP, Thorne H, Fellowes A, Doig K, Lucas M, McNeil JJ, et al. "Cancer 2015": a prospective, population-based cancer cohort-phase 1: Feasibility of genomics-guided precision medicine in the clinic. J Pers Med. 2015;5:354-69. doi: 10.3390/jpm5040354.
-
(2015)
J Pers Med.
, vol.5
, pp. 354-369
-
-
Parisot, J.P.1
Thorne, H.2
Fellowes, A.3
Doig, K.4
Lucas, M.5
McNeil, J.J.6
-
35
-
-
85018558358
-
-
Accessed 19 Apr 2017.
-
NA12878. https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=NA12878. Accessed 19 Apr 2017.
-
-
-
-
36
-
-
85018543859
-
-
Accessed 19 Apr 2017.
-
Bitbucket. https://confluence.atlassian.com/bitbucket. Accessed 19 Apr 2017.
-
-
-
-
37
-
-
84861746974
-
Bpipe: a tool for running and managing bioinformatics pipelines
-
Sadedin SP, Pope B, Oshlack A. Bpipe: a tool for running and managing bioinformatics pipelines. Bioinformatics. 2012;28:1525-6. doi: 10.1093/bioinformatics/bts167.
-
(2012)
Bioinformatics.
, vol.28
, pp. 1525-1526
-
-
Sadedin, S.P.1
Pope, B.2
Oshlack, A.3
-
38
-
-
38149063754
-
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
-
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat. 2008;29:6-13. doi: 10.1002/humu.20654.
-
(2008)
Hum Mutat.
, vol.29
, pp. 6-13
-
-
Wildeman, M.1
Ophuizen, E.2
Dunnen, J.T.3
Taschner, P.E.4
-
39
-
-
84936775632
-
Unified representation of genetic variants
-
Tan A, Abecasis GR, Kang HM. Unified representation of genetic variants. Bioinformatics. 2015;31:2202-4. doi: 10.1093/bioinformatics/btv112.
-
(2015)
Bioinformatics.
, vol.31
, pp. 2202-2204
-
-
Tan, A.1
Abecasis, G.R.2
Kang, H.M.3
-
40
-
-
85018583449
-
-
Accessed 19 Apr 2017.
-
Mutalyzer. https://mutalyzer.nl/. Accessed 19 Apr 2017.
-
-
-
-
41
-
-
77955405475
-
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
-
McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010;26:2069-70. doi: 10.1093/bioinformatics/btq330.
-
(2010)
Bioinformatics.
, vol.26
, pp. 2069-2070
-
-
McLaren, W.1
Pritchard, B.2
Rios, D.3
Chen, Y.4
Flicek, P.5
Cunningham, F.6
-
42
-
-
77956534324
-
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38, e164. doi: 10.1093/nar/gkq603.
-
(2010)
Nucleic Acids Res.
, vol.38
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
43
-
-
84942518519
-
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
-
Yang H, Wang K. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc. 2015;10:1556-66. doi: 10.1038/nprot.2015.105.
-
(2015)
Nat Protoc.
, vol.10
, pp. 1556-1566
-
-
Yang, H.1
Wang, K.2
-
44
-
-
85018619221
-
-
Accessed 19 Apr 2017.
-
Clinvitae. http://clinvitae.invitae.com. Accessed 19 Apr 2017.
-
-
-
-
45
-
-
34248379012
-
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database
-
Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, et al. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat. 2007;28:622-9. doi: 10.1002/humu.20495.
-
(2007)
Hum Mutat.
, vol.28
, pp. 622-629
-
-
Petitjean, A.1
Mathe, E.2
Kato, S.3
Ishioka, C.4
Tavtigian, S.V.5
Hainaut, P.6
-
46
-
-
84976904305
-
ClinVar: public archive of interpretations of clinically relevant variants
-
Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 2016;44:D862-8. doi: 10.1093/nar/gkv1222.
-
(2016)
Nucleic Acids Res.
, vol.44
, pp. D862-D868
-
-
Landrum, M.J.1
Lee, J.M.2
Benson, M.3
Brown, G.4
Chao, C.5
Chitipiralla, S.6
-
47
-
-
84855172217
-
kConFab: a familial breast cancer consortium facilitating research and translational oncology
-
Thorne H, Mitchell G, Fox S. kConFab: a familial breast cancer consortium facilitating research and translational oncology. J Natl Cancer Inst Monogr. 2011;2011:79-81. doi: 10.1093/jncimonographs/lgr042.
-
(2011)
J Natl Cancer Inst Monogr.
, vol.2011
, pp. 79-81
-
-
Thorne, H.1
Mitchell, G.2
Fox, S.3
-
48
-
-
84946040120
-
COSMIC: exploring the world's knowledge of somatic mutations in human cancer
-
Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, Boutselakis H, et al. COSMIC: exploring the world's knowledge of somatic mutations in human cancer. Nucleic Acids Res. 2015;43:D805-11. doi: 10.1093/nar/gku1075.
-
(2015)
Nucleic Acids Res.
, vol.43
, pp. D805-D811
-
-
Forbes, S.A.1
Beare, D.2
Gunasekaran, P.3
Leung, K.4
Bindal, N.5
Boutselakis, H.6
-
49
-
-
57549098807
-
The Catalogue of Somatic Mutations in Cancer (COSMIC)
-
Chapter 10:Unit 10.11.
-
Forbes SA, Bhamra G, Bamford S, Dawson E, Kok C, Clements J, et al. The Catalogue of Somatic Mutations in Cancer (COSMIC). Curr Protoc Hum Genet. 2008;Chapter 10:Unit 10.11. doi: 10.1002/0471142905.hg1011s57.
-
(2008)
Curr Protoc Hum Genet.
-
-
Forbes, S.A.1
Bhamra, G.2
Bamford, S.3
Dawson, E.4
Kok, C.5
Clements, J.6
-
50
-
-
78651330430
-
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
-
Forbes SA, Bindal N, Bamford S, Cole C, Kok CY, Beare D, et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res. 2011;39:D945-50. doi: 10.1093/nar/gkq929.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. D945-D950
-
-
Forbes, S.A.1
Bindal, N.2
Bamford, S.3
Cole, C.4
Kok, C.Y.5
Beare, D.6
-
51
-
-
84892607343
-
Realizing the promise of cancer predisposition genes
-
Rahman N. Realizing the promise of cancer predisposition genes. Nature. 2014;505:302-8. doi: 10.1038/nature12981.
-
(2014)
Nature.
, vol.505
, pp. 302-308
-
-
Rahman, N.1
-
52
-
-
84902148239
-
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine
-
Van Allen EM, Wagle N, Stojanov P, Perrin DL, Cibulskis K, Marlow S, et al. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat Med. 2014;20:682-8. doi: 10.1038/nm.3559.
-
(2014)
Nat Med.
, vol.20
, pp. 682-688
-
-
Allen, E.M.1
Wagle, N.2
Stojanov, P.3
Perrin, D.L.4
Cibulskis, K.5
Marlow, S.6
-
53
-
-
85018532608
-
-
Accessed 19 Apr 2017.
-
FASTQC. http://www.bioinformatics.babraham.ac.uk/projects/fastqc/. Accessed 19 Apr 2017.
-
-
-
-
54
-
-
85018590141
-
-
Accessed 19 Apr 2017.
-
IGV. http://igv.org. Accessed 19 Apr 2017.
-
-
-
-
55
-
-
84875634162
-
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
-
Thorvaldsdottir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform. 2013;14:178-92. doi: 10.1093/bib/bbs017.
-
(2013)
Brief Bioinform.
, vol.14
, pp. 178-192
-
-
Thorvaldsdottir, H.1
Robinson, J.T.2
Mesirov, J.P.3
-
56
-
-
85018540834
-
-
Accessed 19 Apr 2017.
-
JIRA. http://www.atlassian.com/software/jira. Accessed 19 Apr 2017.
-
-
-
-
57
-
-
85018620425
-
-
Accessed 19 Apr 2017.
-
BIC BRCA LSDB https://research.nhgri.nih.gov/bic/. Accessed 19 Apr 2017.
-
-
-
-
58
-
-
85018573143
-
-
Accessed 19 Apr 2017.
-
IARC P53 LSDB http://p53.iarc.fr/DownloadDataset.aspx. Accessed 19 Apr 2017.
-
-
-
-
59
-
-
84896769549
-
Clinical interpretation and implications of whole-genome sequencing
-
Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, et al. Clinical interpretation and implications of whole-genome sequencing. JAMA. 2014;311:1035-45. doi: 10.1001/jama.2014.1717.
-
(2014)
JAMA.
, vol.311
, pp. 1035-1045
-
-
Dewey, F.E.1
Grove, M.E.2
Pan, C.3
Goldstein, B.A.4
Bernstein, J.A.5
Chaib, H.6
-
60
-
-
85018587503
-
-
Accessed 19 Apr 2017.
-
Groovy. http://www.groovy-lang.org. Accessed 19 Apr 2017.
-
-
-
-
61
-
-
85018580213
-
-
Accessed 19 Apr 2017.
-
Grails. http://grails.org. Accessed 19 Apr 2017.
-
-
-
-
62
-
-
85018583538
-
-
Accessed 19 Apr 2017.
-
Children's Cancer Institute https://ccia.org.au/. Accessed 19 Apr 2017.
-
-
-
-
63
-
-
85018619945
-
-
Accessed 19 Apr 2017.
-
GNU General Public License. https://www.gnu.org/licenses/gpl.html. Accessed 19 Apr 2017.
-
-
-
-
64
-
-
85018571096
-
-
Accessed 19 Apr 2017.
-
VM Virtual Box https://www.virtualbox.org/. Accessed 19 Apr 2017.
-
-
-
|