GEN2PHEN Dissemination Activities
| Title | Description | Date | Citation | Status | External link | DOI |
|---|---|---|---|---|---|---|
| Major European project to create new knowledgebase of gene-disease relationships | Jan 2008 | Completed | ||||
| Major European project to create new knowledgebase of gene-disease relationships. |
Published at PHENO website |
Jan 2008 | Major European project to create new knowledgebase of gene-disease relationships.[Online]. 2008. Available from: URL:http://www.phenosystems.com/ | Published | Link | |
| La Fundació IMIM gestionará el Proyecto GEN2PHEN, financiado con 12 millones de euros. |
Communication tool. Published at Diari de Girona, Diario Médico, acceso.com, IMAS Intranet, prbb.net; El.lipse |
Jan 2008 | Completed | |||
| Major European Project To Create New Knowledge Base Of Gene-Disease Relationships. |
Published in Medical News Today |
Jan 2008 | Major European Project To Create New Knowledge Base Of Gene-Disease Relationships. [Online]. 2008. Available from: URL: http://www.medicalnewstoday.com | Published | Link | |
| EU Consortium aims to coordinate rising number of genotype/phenotype databases. |
Published in Bio1nform - Genome Web News |
Feb 2008 | EU Consortium aims to coordinate rising number of genotype/phenotype databases. 2008. Available from: URL: http://www.genomeweb.com | Published | Link | |
| Internet pour cataloguer et étudier les variations génétiques. |
Article published in Biofutur |
Mar 2008 | Andujar G. Internet pour cataloguer et étudier les variations génétiques. Biofutur 2008; 27(287):5-10. | Published | Link | |
| 22nd Immunogenetics and histocompatibility conference - Eurovillage special session |
Poster presented as part of 22nd Immunogenetics and histocompatibility conference - Eurovillage special session (2-5 April) |
Apr 2008 | Proceedings of the 22nd Immunogenetics and histocompatibility conference - Eurovillage special session; 2008 Apr 2-5; Toulouse, France. | Completed | Link | |
| Annual Meeting of the German Society of Human Genetics |
Dissemination materials display and distribution at the Annual Meeting of the German Society of Human Genetics (8-10 April). Booth decoration; poster; press release; flyers. |
Apr 2008 | Completed | |||
| ELIXIR meeting |
Participation in ELIXIR Meeting (European Life Sciences Infrastructure for Biological Information) |
Apr 2008 | Completed | Link | ||
| GEN2PHEN: An international effort towards the universal databasing of gene-disease relationships. |
Poster (ULEIC) and brochure distribution (BCP) |
May 2008 | European Human Genetics Conference. GEN2PHEN: An international effort towards the universal databasing of gene-disease relationships. 2008 May 31. European Human Genetics Conference. | Completed | Link | |
| GEN2PHEN Project - Harnessing the Web for Genomics. |
Article published in eHealthNews.eu |
Mar 2008 | GEN2PHEN Project - Harnessing the Web for Genomics [Online]. 2008 Feb 25. Available from: URL: http://www.ehealthnews.eu/content/view/1003/27/ | Published | Link | |
| Bioinformatics and Systems Biology: Collaborative Research and Resources. |
Book by Fred Marcus |
Jun 2008 | Marcus FB. Bioinformatics and Systems Biology: Collaborative Research and Resources. Brussels (Belgium). Springer; 2008. | Completed | Link | |
| Major European project to create new knowledgebase of gene-disease relationships. |
News article published at the Wallonie NCP website |
Feb 2008 | Major European project to create new knowledgebase of gene-disease relationships. Laboratory Talk [Online]. 2008 Feb 26. http://www.ncpwallonie.be/ | Published | Link | |
| From genotype to phenotype. |
News article published at Laboratorytalk |
Mar 2008 | From genotype to phenotype. Laboratory Talk [Online]. 2008 Mar 11. http://www.laboratorytalk.com/news/phy/phy101.html | Published | Link | |
| Genotype–phenotype databases: challenges and solutions for the post-genomic era. |
Review on G2P DBs at Nature Reviews Genetics. Structure agreed for review on G2P DBs. Synopsis accepted in Nature Reviews Genetics |
Mar 2008 | Gudmundur T, Muilu J & Brookes AJ. Genotype–phenotype databases: challenges and solutions for the post-genomic era. Nature Rev. Gen. 2009:10, 9-18. | Published | Link | 10.1038/nrg2483 |
| Tracing biological collections: between books and clinical trials. |
Journal of the American Medical Association (JAMA). Authors: Francine Kauffmann; Anne Cambon-Thomsen |
Apr 2008 | Kauffmann F; Cambon-Thomsen A. Tracing biological collections: between books and clinical trials. JAMA. 2008; 299(19):2316-2318. | Published | Link | 10.1001/jama.299.19.2316 |
| HGVbaseG2P: a Central Genetic Association Database. |
HGVbaseG2P: a Central Genetic Association Database. |
Jan 2009 | Thorisson GA, Lancaster O, R.C.Free, R.K.Hastings, P.Sarmah, D.Dash,S.Brahmachari and A.J.Brookes. HGVbaseG2P: a Central Genetic Association Database. Nucleic Acids Res. 37:D797-802. | Published | Link | 10.1093/nar/gkn7 |
| The Phenotype and Genotype Experiment Object Model (PaGE-OM): A robust data structure for information related to DNA variation. |
The Phenotype and Genotype Experiment Object Model (PaGE-OM): A robust data structure for information related to DNA variation. |
Jan 2009 | Brookes AJ, Lehvaslaiho H, Muilu J, Shigemoto Y, Oroguchi T, Tomiki T, Mukaiyama A, Konagaya A, Kojima T, Inoue I, Kuroda M, Mizushima H, Thorisson GA, D.Dash, Rajeevan H, Darlison MW, M.Woon, Fredman D, Smith AV, Senger M, Naito K and Sugawara H. The Phenotype and Genotype Experiment Object Model (PaGE-OM): A robust data structure for information related to DNA variation. Hum Mutat. 2009 Mar 18. 30(6): 968-977. | Published | 10.1002/humu.20973 | |
| Ethical issues and subsequent governance in the GEN2PHEN project. |
Abstract. European Society of Human Genetics - ESHG Conference 2009. Selected to be presented at the ESHG Workshop 4 (WS4) “Genetic Education”. |
Feb 2009 | Cambon-Thomsen A, Pigeon A, Rial-Sebbag E, Gourraud PA, Thomsen M, & GEN2PHEN consortium. Ethical issues and subsequent governance in the GEN2PHEN project. European Journal of Human Genetics. 2009 May. 17(2):45. | Completed | Link | |
| Specific Brochure |
Brochure under development to promote the LSDB software developed within WP4 amongst LSDB curators. |
Feb 2009 | Completed | |||
| Planning the Human Variome Project: The Spain Report. | Dec 2008 | Kaput J, Cotton RGH, Hardman L, Al Aqeel AI, Al-Aama JY,Al-Mulla F, et al. Planning the Human Variome Project: The Spain Report. Hum Mutat. 30 (4): 496–510. | Published | Link | 10.1002/humu.20972 | |
| ARABELLA - A Directed Web Crawler. |
Paper accepted in KDIR 2009 |
Oct 2009 | Lopes P, Davide C, Oliveira J L. ARABELLA - A Directed Web Crawler. KDIR International Conference on Knowledge Discovery and Information Retieval. 2009 Apr 28; Madeira, Portugal. | Completed | Link | |
| Building a knowledge base for systems pathology. |
Paper published in Briefings in Bioinformatics |
Dec 2008 | Michael H, Hogan J, Kel A, Kel-Margoulis O, Schacherer F, Voss N and Wingender E. Building a knowledge base for systems pathology. Brief Bioinform. 2008 Nov; 9(6):518-31. Epub 2008 Dec 10. | Published | Link | 10.1093/bib/bbn038 |
| Collecting gene sequence variants and their phenotypic consequences in web-based LSDBs for Mendelian disorders. |
Abstract. HUGO Mutation Detection Course 2009. |
Apr 2009 | Fokkema IFAC, Taschner PEM, van Ommen GJB, den Dunnen JT. Collecting gene sequence variants and their phenotypic consequences in web-based LSDBs for Mendelian disorders. HUGO Mutation Detection Course. 2009 May 28-31; Cyprus. | Published | ||
| Human Splicing Finder: an online bioinformatics tool to predict splicing signals. |
Article describing a new annotation tool for mutations disrupting splicing signals. |
Apr 2009 | Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37(9):e67. Epub 2009 Apr 1. | Published | Link | |
| Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. |
Article describing a new LSDB. |
Jan 2009 | Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Van Kien PK, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat. 2009 Jun;30(6):934-45. | Published | Link | 10.1002/humu.20976 |
| Set-up of international collaborations to build LSDBs for genes involved in Congenital Muscular Dystrophies |
CMD workshop. 02-03/04/2009 |
Apr 2009 | Completed | Link | ||
| Grid-enabling G2P association studies: a knowledge discovery scenario. |
Publication. Theme 1. Biomedical Signal Processing; Track 1.9 Algorithms for Data Mining and Data Processing. Engineering in Medicine and Biology Society (EMBC'09). 2009 Sep 2-6; Minesota, USA. |
Sep 2009 | Potamias G. Grid-enabling G2P association studies: a knowledge discovery scenario. Engineering in Medicine and Biology Society (EMBC'09). 2009 Sep 2-6; Minesota, USA. | Published | Link | |
| LSDB INTEGRATOR - A Link-based Information Integration Architecture |
Paper accepted in KDIR 2009. Lopes P, Arrais J , Oliveira J L. LSDB INTEGRATOR - A Link-based Information Integration Architecture. KDIR 2009 |
Apr 2009 | Lopes P, Arrais J , Oliveira J L. LSDB INTEGRATOR - A Link-based Information Integration Architecture. KDIR International Conference on Knowledge Discovery and Information Retieval. 2009 Oct 6 - 8; Madeira, Portugal. | Completed | ||
| GEN2PHEN: Unifying human and model organism genetic variation databases. |
Gen2Phen poster exhibit and 50 brochures distributed. 29 a 30th of May. Workshop Internacional - Genomic Disorders, Disease-Associated Chromosome Rearrangements and Position Effect. Instituto Nacional de Saúde Dr Ricardo Jorge de Lisboa. |
May 2009 | Oliveira JL , Brookes AJ , and the GEN2PHEN Consortium. GEN2PHEN: Unifying human and model organism genetic variation databases. Workshop Internacional - Genomic Disorders, Disease-Associated Chromosome Rearrangements and Position Effect. 2009 May 29; Lisboa, Portugal. | Completed | ||
| The First GEN2PHEN Pilot Project: Documenting the bioinformatics requirements of clinical scientists. |
Abstract submitted to the British Society for Human Genetics (BSHG) |
May 2009 | Cornell M. The First GEN2PHEN Pilot Project: Documenting the bioinformatics requirements of clinical scientists. British Society for Human Genetics (BSHG). 2009 Aug 31- Sept 2; Warwick, United Kingdom. | Completed | ||
| Mission d’information sur la révision des lois bioéthiques |
Contribution to the French national consultation on the revision of the bioethics law on genetic testing following a series of 6 workshops on ethical aspects of genetic testing. Ms Cambon-Thomsen, Geneticist, reserch director at CNRS, l'INSERM, member of "groupe européen d'éthique des sciences et des nouvelles technologie (GEE)". |
Jul 2009 | Cambon-Thomsen A. Mission d’information sur la révision des lois bioéthiques. National Parliament. 2009 Jul 08; France. Available at: URL: http://www.assemblee-nationale.fr/13/commissions/bioethique/bioethique-20090708-4.asp. | Completed | Link | |
| Plant & Animal Genome XVIII Conference | Distribution of GEN2PHEN brochures on company exhibition stand | Jan 2010 | Completed | |||
| The Finnish society for Medical Genetics Meeting | Distribution of GEN2PHEN brochures on company exhibition stand | Mar 2010 | Completed | |||
| 5th Annual Canadian Genetic Epidemiology and Statistical Genetics | Distribution of GEN2PHEN brochures on company exhibition stand | Mar 2010 | Completed | |||
| European Human Genetics Conference 2010 | Distribution of GEN2PHEN brochures on company exhibition stand | Jun 2010 | Completed | |||
| Gene Forum 2010 | Distribution of GEN2PHEN brochures on company exhibition stand | Jun 2010 | Completed | |||
| The UniProt/Swiss-Prot Knowledgebase: a hub for informations about proteins | Gen2Phen mentioned in a talk given at the Biozentrum, University of Basel, in the frame of the Computational Biology Seminar Series. Brochure distribution. | Sep 2010 | Completed | |||
| The UniProt/Swiss-Prot Knowledgebase: a hub for informations about proteins |
Talk at the University of Lausanne in the frame of the Lausanne Biomolecular Modelling Seminars. GEN2PHEN to be mentioned in the talk. Distribution of brochures. |
Oct 2010 | Completed | |||
| Manual Biocuration, a UniProtKB/Swiss-Prot Perspective | GEN2PHEN has been mentioned in the talk given at the fourth international biocuration conference: Biocuration 2010, October 11-14 2010, Odaiba, Tokyo, Japan. Brochures have been distributed | Oct 2010 | Completed | |||
| IX International Congress Autism-Europe | Distribution of GEN2PHEN brochures on company exhibition stand | Oct 2010 | Completed | |||
| International Genetic Epidemiology Society | Distribution of GEN2PHEN brochures on company exhibition stand | Oct 2010 | Completed | |||
| BC Platforms workshop | Distribution of GEN2PHEN brochures on BC Platforms workshop in Kuopio, Finland | Oct 2010 | Completed | |||
| Advances in Genome-Wide Association Studies workshop at Erasmus University | brochure distribution and presentation at a workshop at Erasmus University | Mar 2010 | Completed | |||
| UniProtKB/Swiss-Prot in the human “variome” era: challenges and collaborations | Poster presented at the SIB annual meeting, Biel/Bienne 31 January-1 February 2011 | Jan 2011 | Completed | |||
| VarioML dissemination at Human Variome Project 4th Biennial Meeting | A VarioML poster was presented at the 4th Biennial Meeting of the Human Variome Project, at UNESCO Headquarters in Paris. VarioML was discussed in planning meetings, in coordination with other GEN2PHEN projects, and disseminated to the human variation community throughout the event. | Jun 2012 | Completed | |||
| VarioML dissemination at European Human Genetics Conference 2012 | A VarioML poster was presented at the European Human Genetics Conference 2012. VarioML was presented and discussed with many colleagues at the GEN2PHEN booth, in coordination with other GEN2PHEN projects, and disseminated to the human genetics community throughout the event. | Jun 2012 | Completed | |||
| ELSI 2.0 for Genomics and Society | May 2012 | Published | ||||
| OpenPhacts Meeting 2011. 19th-20th September, 2011 | Schacherer F - Data Sharing Issues SME Data Owner Perspective | Sep 2011 | Completed | |||
| Genome Informatics Alliance 2012. 28-29 Mar, 2012 | Schacherer F: One million monkeys with typewriters: Annotation of the Genomic Data Deluge. Oral Presentation | Mar 2012 | Completed |