메뉴 건너뛰기




Volumn 9, Issue 1, 2017, Pages

PathOS: A decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOINFORMATICS; CANCER DIAGNOSIS; CLINICAL LABORATORY; DECISION SUPPORT SYSTEM; DIGITAL FILTERING; GENE FREQUENCY; HIGH THROUGHPUT SEQUENCING; NEXT GENERATION SEQUENCING; ONLINE SYSTEM; SOFTWARE; WEB BROWSER; CLINICAL LABORATORY SERVICE; DNA SEQUENCE; GENETICS; GENOMICS; HUMAN; NEOPLASMS; PERSONALIZED MEDICINE; PROCEDURES;

EID: 85018588544     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-017-0427-z     Document Type: Article
Times cited : (25)

References (64)
  • 1
    • 84940543237 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • NATA. http://www.nata.com.au. Accessed 19 Apr 2017.
  • 4
    • 84896371874 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • Agilent. Cartagenia. 2016. http://www.agilent.com/en-us/promotions/cartagenia-overview. Accessed 19 Apr 2017.
    • (2016) Cartagenia
  • 7
    • 85018547189 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • QIAGEN. Ingenuity. 2016. https://www.qiagenbioinformatics.com/products/ingenuity-variant-analysis/. Accessed 19 Apr 2017.
    • (2016) Ingenuity
  • 9
    • 85018598897 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 23
    • 22844452823 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • MariaDB. https://mariadb.org/. Accessed 19 Apr 2017.
  • 32
    • 84901604272 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • "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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • NA12878. https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=NA12878. Accessed 19 Apr 2017.
  • 36
    • 85018543859 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • Bitbucket. https://confluence.atlassian.com/bitbucket. Accessed 19 Apr 2017.
  • 37
    • 84861746974 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • Mutalyzer. https://mutalyzer.nl/. Accessed 19 Apr 2017.
  • 41
    • 77955405475 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • Clinvitae. http://clinvitae.invitae.com. Accessed 19 Apr 2017.
  • 45
    • 34248379012 scopus 로고    scopus 로고
    • 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
  • 47
    • 84855172217 scopus 로고    scopus 로고
    • 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
  • 50
    • 78651330430 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • FASTQC. http://www.bioinformatics.babraham.ac.uk/projects/fastqc/. Accessed 19 Apr 2017.
  • 54
    • 85018590141 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • IGV. http://igv.org. Accessed 19 Apr 2017.
  • 55
    • 84875634162 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • JIRA. http://www.atlassian.com/software/jira. Accessed 19 Apr 2017.
  • 57
    • 85018620425 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • BIC BRCA LSDB https://research.nhgri.nih.gov/bic/. Accessed 19 Apr 2017.
  • 58
    • 85018573143 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • IARC P53 LSDB http://p53.iarc.fr/DownloadDataset.aspx. Accessed 19 Apr 2017.
  • 59
    • 84896769549 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • Groovy. http://www.groovy-lang.org. Accessed 19 Apr 2017.
  • 61
    • 85018580213 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • Grails. http://grails.org. Accessed 19 Apr 2017.
  • 62
    • 85018583538 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • Children's Cancer Institute https://ccia.org.au/. Accessed 19 Apr 2017.
  • 63
    • 85018619945 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • GNU General Public License. https://www.gnu.org/licenses/gpl.html. Accessed 19 Apr 2017.
  • 64
    • 85018571096 scopus 로고    scopus 로고
    • Accessed 19 Apr 2017.
    • VM Virtual Box https://www.virtualbox.org/. Accessed 19 Apr 2017.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.