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D9.2 - Report on the GEN2PHEN Deployment of Communication Tools
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HEALTH-F4-2007-200754
www.gen2phen.org
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9 – Dissemination, Use And Future Sustainability
V1.4 Final
Lead beneficiary: FIMIM Date: 10/02/2010 Nature: Report Dissemination level: PU (Public)
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
v1.4 – Final
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TABLE OF CONTENTS DOCUMENT INFORMATION .................................................................................................. 3 DOCUMENT HISTORY ............................................................................................................. 3 DEFINITIONS .............................................................................................................................. 4 1. INTRODUCTION..................................................................................................................... 5 2. COMMUNICATION TOOLS................................................................................................. 5 2.1 LOGO ............................................................................................................................... 6 2.2 GEN2PHEN WEBSITE AND KNOWLEDGE CENTRE.......................................................... 6 2.2.1 GEN2PHEN Knowledge Centre ............................................................................. 8 2.3 BROCHURES ................................................................................................................... 11 2.3.1 Project brochure ................................................................................................... 11 2.3.2 LSDB- Solutions brochure .................................................................................... 11 2.3.3 Knowledge Centre Brochure................................................................................. 11 2.4 POSTERS ........................................................................................................................ 11 2.4.1 Project poster........................................................................................................ 11 2.4.2 Knowledge centre poster....................................................................................... 12 3. GEN2PHEN DISSEMINATION ACTIVITIES .................................................................. 12 3.1 CHARACTERIZATION OF ACTIVITIES ............................................................................... 12 3.1.1. Participations in scientific conferences ................................................................ 13 3.1.2. Scientific publications........................................................................................... 13 3.1.3. Media articles ....................................................................................................... 15 3.1.4. Organisation of conferences and workshops........................................................ 15 3.2 TARGETED AUDIENCES ......................................................................................................... 15 3.3 REPORTING TOOL ................................................................................................................ 17 ANNEXES ................................................................................................................................... 19 ANNEX I – GEN2PHEN BROCHURE....................................................................................... 19 ANNEX II – LSDBS SOLUTIONS BROCHURE ...................................................................... 20 ANNEX III – GEN2PHEN- KNOWLEDGE CENTRE BROCHURE........................................ 21 ANNEX IV – GEN2PHEN POSTER........................................................................................... 22 ANNEX V – GEN2PHEN- KNOWLEDGE CENTRE POSTER................................................ 23 ANNEX VI – TUTORIAL: how to use of the reporting tool for dissemination activities .......... 24 ANNEX VII – DISSEMINATION ACTIVITIES LIST .............................................................. 32
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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Document Information
Grant Agreement HEALTH-F4-2007-200754 Number Full title Project URL Acronym GEN2PHEN
Genotype-To-Phenotype Databases: A Holistic Solution http://www.gen2phen.org
EU Project officer Frederick Marcus (Frederick.Marcus@ec.europa.eu) Deliverable Work package Delivery date Status Nature Dissemination Level Report Public Number 9.2 Number 9 Contractual Title Title Month 24 Report on the GEN2PHEN Deployment of Communication Tools Dissemination, Use And Future Sustainability Actual final Other 10/02/2010
Version 1.4 Prototype Confidential
Authors (Partner) E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Responsible Author E. Molero Partner FIMIM Email emolero@imim.es Phone (+34) 93 316 0523
Document History
Name A. Reiche A. Reiche, E. Molero Date
A. Webb A. Reiche, E. Molero A. Reiche
24/11/2009 27/01/2009 04/02/2009 04/02/2009 10/02/2010
Version 1.0
Description First draft
1.1 1.2 1.3 1.4
Further development of text Development of the Knowledge C. section Internal review Final adjustments
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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Definitions
Partners of the GEN2PHEN Consortium are referred to herein according to the following codes: ULEIC – University of Leicester (UK) – Coordinator EMBL – European Molecular Biology Laboratory (Germany) – Beneficiary FIMIM – Fundació IMIM (Spain) – Beneficiary LUMC – Leiden University Medical Center (Netherlands) – Beneficiary INSERM – Institut National de la Santé et de la Recherche Médicale (France) – Beneficiary KI – Karolinska Institutet (Sweden) – Beneficiary FORTH – Foundation for Research and Tecnology Hellas (Greece) – Beneficiary CEA – Comissariat à l’Energie Atomique (France) – Beneficiary EMC – Erasmus Universitair Medisch Centrum Rotterdam (Netherlands) – Beneficiary UH.FGC – Helsingin Yliopisto (Finland) – Beneficiary UAVR – Universidade de Aveiro (Portugal) – Beneficiary UWC – University of the Western Cape (South Africa) – Beneficiary CSIR – Council of Scientific and Industrial Research (India) – Beneficiary SIB – Swiss Institute of Bioinformatics (Switzerland) – Beneficiary UNIMAN – The University of Manchester (UK) – Beneficiary BIOBASE – BioBase GmbH. (Germany) – Beneficiary deCODE – Islensk Erfoagreining EH (Iceland) – Beneficiary PHENO – Phenosystems S.A. (Belgium) – Beneficiary BCP – Biocomputing Platforms Ltd. Oy (Finland) – Beneficiary
Grant Agreement: The agreement signed between the beneficiaries and the European Commission for the undertaking of the GEN2PHEN project (HEALTH-200754). Project: The sum of all activities carried out in the framework of the Grant Agreement by the Consortium. Work plan: Schedule of tasks, deliverables, efforts, dates and responsibilities corresponding to the work to be carried out for the GEN2PHEN project, as specified in Annex I to the Grant Agreement. Consortium: The GEN2PHEN Consortium, conformed by the above-mentioned legal entities. Consortium agreement: agreement concluded amongst GEN2PHEN participants for the implementation of the Grant Agreement. Such an agreement shall not affect the parties’ obligations to the Community and/or to one another arising from the Grant Agreement.
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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1. INTRODUCTION
The present document aims at reporting the main achievements from the exploitation of communication tools developed for the GEN2PHEN project, during its first 2 years of activity. The items herein described have been designed and implemented in accordance with the GEN2PHEN Communication Plan (Deliverable 9.1) towards the construction of a consistent framework so as to ensure that information is shared with appropriate audiences by the most effective and sustainable means. GEN2PHEN is strongly committed towards liaising with the G2P community, encompassing both academia and industry, in order to ensure that their needs are taken into account, and all the possible synergies with other initiatives in the field are exploited. From this interaction, proposed solutions can be widely adopted and long-term sustainability models should be appropriately designed. In order to achieve these results, a continuous effort is directed towards building solid dissemination, exploitation and knowledge management strategies that support the creation of an environment of mutual trust and understanding beyond the Consortium. As stated in the communication plan, for the first phase of the project the main goal was to generate awareness on the project by presenting it in general terms to predefined target audiences. After accomplishing this through a number of concrete actions that will be described in the following sections, efforts will be dedicated to keep attracting attention of the relevant audiences and also to construct and improve useful dissemination tools. Reflecting the above, over 180 dissemination actions have already been carried out, from paper publications to oral presentations at congresses. In parallel, the initial project’s website has migrated to the GEN2PHEN Knowledge Centre, projected to be a major G2P internet portal that helps enable knowledge management throughout the GEN2PHEN project with the active involvement of the whole G2P community. In this respect, the GEN2PHEN Knowledge Centre (WP8) is expected to significantly contribute to reinforce and multiply the dissemination and impact of the GEN2PHEN activities towards the genotype-to-phenotype community. Several communication tools have been developed and updated so far, ensuring its adaptability to both national and international contexts of the different partners in the Consortium whilst providing a solid baseline that can effectively facilitate communication and dissemination. Besides the general project leaflet developed in the first year, two new specific brochures have been created in the second year: an LSDB brochure and a diptych focused on the GEN2PHEN Knowledge Centre.
2. COMMUNICATION TOOLS
The rapid development of information technologies that we have faced in the past decade has lead to an increasing number of available communication channels for a project to benefit from.
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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With diminished cost, versatile tools can be created and broadly disseminated through the internet (e.g.; website, brochures, newsletters, flyers, posters or videos). Taking advantage of the above, adequate tools were created, providing a solid baseline that can effectively facilitate communication and dissemination, while ensuring its adaptability to the different needs of partners in the Consortium. During the second year of the project, new dissemination tools have been developed and are described hereunder. As the project unfolds over time, the development of new tools is expected if the need arises, as well as the updating of existing ones as needed. However, it is worth to mention that the core of tools planned initially has already been developed. 2.1 Logo The GEN2PHEN logo was developed by a professional graphic designer with the participation of partners. Aimed at fairly representing the high level of resources mobilised, the reputation of the organisations involved, the logo presents a professional corporate image that contributes to reinforce the previously mentioned attributes of the project. Purposely, the logo graphically embodies fundamental concepts of the project. The spheres evolving into square shapes underpin the idea of organising and structuring the G2P field and also the conjunction of the “bio” and “IT” (information technology) disciplines. A mix of cold (blue) and warm (orange) colours is present to stress again the union of different fields of expertise necessary to achieve the GEN2PHEN objectives. Once approved by the Consortium, several logo versions were deployed, adapted to the several uses that could be foreseen, so as to ensure the best possible quality of reproduction. The eight final versions are available for download from the private area of the website. The logo is being used in all communication tools and activities related to the project.
Figure 1: GEN2PHEN logo
2.2 GEN2PHEN Website and Knowledge Centre The project website has been developed to be the main source of information about the project. Additionally, it has evolved to become part of the Knowledge Centre developed by WP8. Due to
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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its ambition, the Knowledge Centre has required intense effort and its launch was made on month 18 (June 2009) as scheduled. It was therefore decided to build a simple first version of the project website that could be launched as soon as possible rather than waiting until the full Knowledge Centre publication. The first step undertaken was the registration of the internet domain www.gen2phen.org, in parallel to the website graphic design. Several content management system (CMS) options were considered in order to provide easy update of the website contents and it was finally decided to use Drupal. The GEN2PHEN website image used colours and images in harmony with the project’s logo (i.e. including variations of tones for blue, yellow and orange). The website was composed by a public area and a password protected “partners only” zone, where internal information about the project (work in progress, tools and logistics aspects) is displayed and available for download by partners. A similar structure and corresponding documents was transferred to the Knowledge Centre, as it will be further explained in the next section.
Figure 2: GEN2PHEN initial website - homepage
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
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2.2.1
GEN2PHEN Knowledge Centre
The GEN2PHEN Knowledge Centre (D8.2) was launched June 2009, and incorporates all content from the previous GEN2PHEN project website, plus many additional new features. Indeed, the Knowledge Centre (KC) has developed, and continues to develop, into a hub of information and data for the G2P domain. Promotion of the GEN2PHEN project and its related activities remains an integral part of the KC. Information from the previous site has been ported to the KC across various sections. Pages relating to promotion of the GEN2PHEN project can be found within the ‘About GEN2PHEN’ section. This section is accessible from a prominent main menu tab and comprises of the following pages and sub-sections: • About GEN2PHEN: a brief overview of the project and funding (figure 3). A box of ‘alerts’ lists recent GEN2PHEN activities, with links to relevant resources. Visitors may subscribe to these alerts via an RSS feed, providing up-to-date information on the project without the need to visit the site. This page also includes links to the following sections: o General information o List of partners o Project summary and objectives o Background and concept o Future vision / current reality • Work Package descriptions o Each work package has its own page including a brief description and links to all KC content related to that work package. Anonymous visitors (i.e. the general public) only see links to publicly available materials, including deliverables. Signed-in GEN2PHEN partners will see links to all materials. All users may view a list of pending deliverables. This makes the goals and deliverables of the GEN2PHEN project immediately accessible to the general public. • Dissemination activities o A listing of all publicly visible dissemination activities undertaken by the project, as submitted by partners through the dissemination reporting tool discussed later. • Publications listing o A listing of GEN2PHEN related publications. These are also added via the dissemination activity reporting tool and include URLs and digital object identifiers (DOIs). A ‘contact us’ link appears on every page, allowing visitors to make enquiries to the project easily. Files and documents previously held in the original site’s restricted area are now found in the Partners’ Zone. This area is only accessible to GEN2PHEN partners, who may add materials to the area as necessary.
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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Figure 3: The About GEN2PHEN section of the KC. Relevant sections are easily accessed both from the main menu tab (not shown) or the left-hand menu. A box of alerts notifies users of recent GEN2PHEN activities.
2.2.1.1 Site design and graphical elements
The layout and colours used throughout the GEN2PHEN Knowledge Centre have been carefully chosen to reflect the GEN2PHEN Project’s corporate image. The colours seen in the GEN2PHEN logo (predominantly azures blue, with flashes of oranges and yellows) are used throughout the site, while gentle rounded corners used on graphical elements echo the shape of the project logo. This provides a distinct and consistent image for both the GEN2PHEN project and the Knowledge Centre itself. The Knowledge Centre’s own logo (figure 4) extends the GEN2PHEN logo, adding ‘Knowledge Centre’ text in the same typeface plus the ‘Knowledge Centre’ icon. The icon represents the Knowledge Centre as a central hub for accessing multiple resources and data exchange through strong links. The icon scales well, and is used as the ‘bookmark’ icon that appears in the address bar and ‘bookmarks/favourites’ list in many internet browsers. The icon, and the logo as a whole, aims to establish a strong visual identity for the website as a distinct entity to the project itself,
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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while still retaining a clear relationship to the project’s own logo. The icon appears throughout the site and across the site’s dissemination materials and presentations.
Figure 4: GEN2PHEN Knowledge Centre logo The logo is available in numerous formats and sizes, for both web and print use. To further define a strong visual identity for the GENPHEN Knowledge Centre, we have created a number of icons that are used throughout the site: Icon used for documents in the KC. These include Word documents, PDFs, Excel spreadsheets and Powerpoint presentations. Post, a standard article or discussion point in the KC Blog, used to denote blog postings
News item
Wiki page, a standard collaborative document which may have many editors.
Announcement or information regarding a dissemination activity Interest Group. Used to represent the numerous specialist working group areas set up on the KC. Currently most of these groups represent GEN2PHEN activities, and the majority are open to the general public increasing project exposure. These icons are both intuitive in use to the website users, and retain a close relationship with other elements of the site and GEN2PHEN promotional materials. These icons were all produced in-house, and can be made available at any size. In addition to their extensive use on the website, these icons are also used on promotional materials, such as the KC brochure, poster and on slides for oral presentations.
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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2.3 Brochures
2.3.1 Project brochure
The present version of the brochure was completed in May 2008. It is available in A4 size diptych and contains basic project information: a summary section and general objectives of the project, the main activities, the project vision and the Consortium members. The brochure has been printed using hard paper, so that it can be used standalone or as a folder including documents with more specific information. Three thousand brochures have been printed, of which 2,260 (77.3%) have already been distributed. Reprints are foreseen in the near future, possibly with minor updates in the brochure content to be discussed in the next General Assembly meeting. The general aspect of the project brochure can be seen in Annex I.
2.3.2 LSDB- Solutions brochure
As announced in D9.1, a specific brochure on LSDBs (locus-specific databases) was initially developed in November 2008, to support networking activities of partners in the LSDB field and recruitment of databases curators. Partners have actively participated in writing and editing the text, as well as in choosing the most adequate and attractive design. This resulted in a final version of the brochure (see Annex II); made available in both print and electronic versions, being the later in “PPT” format that can be easily adapted by partners in future needs. A thousand brochures have been printed, of which 400 (40%) have already been distributed. The general aspect of the LSDB- Solutions brochure can be seen in Annex II.
2.3.3 Knowledge Centre Brochure
This brochure was designed with the purpose of expanding the use of the Knowledge Centre outside de consortium. The text includes a small paragraph introducing the aim of the Knowledge Centre followed by subsections that explain its available features and tools. The design explores the appearance and colour scheme of the GEN2PHEN logo to the flyer. A thousand brochures have been printed and circulation in six different conferences is foreseen for the next 12 months (Jan- Dec 2010). The general aspect of the LSDB- Solutions brochure can be seen in Annex III. 2.4 Posters
2.4.1 Project poster
A poster containing introductory information about the project was developed and presented for the first time at the 22nd Immunogenetics & Histocompatibility Conference in April 2008. This poster has been used at other fora afterwards and it has also been distributed as an A4-size
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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brochure at times where printed brochures were unavailable. The general aspect of the poster is shown in Annex IV.
2.4.2 Knowledge centre poster
A poster containing introductory information about the project was developed and presented for the first time at the 2009 European Society of Human Genetics Conference. The general aspect of the poster can be seen in Annex V.
3. GEN2PHEN DISSEMINATION ACTIVITIES
3.1 Characterization of activities In order to keep track of the different activities carried out, every 3 months partners are asked to report dissemination activities planned or done in the period. Only those activities that effectively reflect on the project dissemination and include the required EC funding acknowledgement are taken into account. So far, 187 activities were reported and those unfold to 209 concrete actions, given that many times one activity may result in more than one action (e.g.; 1 activity, a participation in a conference, may result in 3 actions: oral presentation, publication of an abstract and poster exhibition). Dissemination actions are categorized as shown in Table 1 – Type of Activities. Publications (abstract and scientific articles) and participations in Conferences correspond together for 56.3% of dissemination actions (117 actions).
Type of Activities Publication of Articles Abstracts Poster Presentations Oral presentations Media Articles Brochure distribution Organization of Events Scientific meetings Communication tools Other No. Activities 21 20 22 56 18 16 15 22 3 16 Percentage 10.05% 9.57% 10.53% 26.79% 8.61% 7.66% 7.18% 10.53% 1.44% 7.66%
Table 1 – Type of Activities
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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A general percentage distribution by type of activities and current status is given in Graphic 1.
Type of Activities
Communication tools Other 1% 8% Scientific meetings 11%
Publication of Articles 10% abstract 10% Publication of Articles abstract poster 10% poster oral presentations News/ P. Release Brochure distribution oral presentations 26% Organization of Events Scientific meetings Communication tools Other
Organization of Events 7% Brochure distribution 8% News/ P. Release 9%
Graphic 1 - Type of activities
3.1.1. Participations in scientific conferences
Participation in scientific events corresponds to 36.7% of dissemination activities. More specifically, 22 posters were presented (10.5%), 20 abstracts were published (9.6%) and 55 oral presentations were performed (26.8%). Among the events attended, highly recognized conferences worldwide distributed are included, such as the European Society of Human Genetics Conference and the International Meeting on Human Genome Variation and Complex Genome Analysis. In total, 20 scientific meetings were attended, representing 9.5% of total dissemination activities. In those meetings, networking with other related consortium was exercised. From those meetings, close collaboration has been developed and mutual leverage opportunities are foreseen.
3.1.2. Scientific publications
As the main dissemination objective of GEN2PHEN is precisely to engage the scientific community, foremost importance is given to build a large portfolio of publications at high impact journals related to the project. Consequently, partners have started to submit papers early stages of the project.
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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Scientific publications represent 10% of dissemination activities. In total 9 scientific papers were published in the first two years of the project, and another 3 are submitted. Among those, high impact factor journals are included, such as Nature Reviews Genetics and Journal of the American Medical Association. Those publications have also been reported directly to the EC through the SESAM/ FORCE application. It is foreseen that the number of papers submitted and published will increase as the project progresses, as well as the percentage of joint publications over the total. The list of articles published in indexed Journals follow: 1. 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. 2. 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 Apr 1. PMID: 19339519. 3. Frédéric MY, Lalande M, Boileau C, Hamroun D, Claustres M, Béroud C, Collod-Béroud G. Hum Mutat. UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat. 2009 Jan 20. [Epub ahead of print] 4. Gudmundur T, Muilu J & Brookes AJ. Genotype–phenotype databases: challenges and solutions for the post-genomic era. Nature Rev. Gen. 2009:10, 9-18. 5. Kauffmann F; Cambon-Thomsen A. Tracing biological collections: between books and clinical trials. JAMA. 2008; 299(19):2316-2318. 6. 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. Volume 30 Issue 4. 496 – 510. 7. 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):51831. Epub 2008 Dec 10. 8. 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, GuiochonMantel 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.
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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9. Thorisson GA, Lancaster O, Free RC, Hastings RK, Sarmah P, Dash D, Brahmachari S and Brookes AJ. HGVbaseG2P: a Central Genetic Association Database. Nucleic Acids Res. 37:D797-802.
3.1.3. Media articles
Media articles published correspond to 8.6% of dissemination activities. In a sum, 18 articles were published through the internet and local press. Among the websites where articles related to the project were available, highly divulgated news websites are included, for instance “Medical News Today” (2 million unique visitors per month, according to their own website) and “Genome Web”.
3.1.4. Organisation of conferences and workshops
Participation in scientific events is highly considered in the GEN2PHEN dissemination strategy, since it represents not only a training tool, but an opportunity for networking and disseminating the solutions developed by the project to a very targeted group of people highly interested in the G2P field. The activities dedicated to the organisation of workshops and other scientific events contribute to 7.2% of the total. This corresponds to 15 different events, being 12 of those workshops where GEN2PHEN partners were involved in the coordination, within a variety of subjects and locations. As an example it is worth highlighting the “Identifying Researchers on the Biomedical Web” workshop, held on May 13-14 2009 in Toronto, Canada. Additionally, the project has participated in the organization of 3 conferences specified below: 1. Organisation Human Genome Variation Conference. 2009 Sep 11-13; Tallinn, Estonia. 2. Co-organised and presented talks at international Biobanking Conference. 2009, Mar 25-27 March; Brussels, Belgium. 3. Organisation of workshop "The status of the genetic information in society". 2009 Mar 28; Toulouse, France. 3.2 Targeted audiences As part of the GEN2PHEN communication strategy, special attention is given to the selection of audiences, believing that the exploitation of dissemination channels depends significantly on choosing the most suitable actions and tools to impact those audiences. Reflecting the above, scientists from G2P and neighbouring fields are the primary audience to be targeted. Interacting with them and gaining mutual understanding is a priority, as GEN2PHEN aims to influence the G2P field by deploying its solutions. As a result, the majority of activities involve the participation of scientific audiences (94.6% of total dissemination actions). On the other hand, it is important to emphasize that 22% of total activities also include the participation of other audiences such as the general public (7%), medical/clinical (5.4%), authorities (3.8%) and commercial representatives (5.9%). A percentage representation is provided in graphic 2.
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D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC) Security: PU Version:
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Audiences
Authorities 3% Commercial 5%
General public 4% Medical/ Clinical 6%
Scientif ic Medical/Clinical General public
Scientific 82%
A uthorities commercial
Graphic 2: Main audiences targeted in the Gen2PHEN dissemination activities At the same time, the GEN2PHEN Knowledge Centre is prepared to give all the basic information regarding the project and permanently accessible to all publics through the internet. As an example, a screenshot of the page that offers the most general information about the project is given below:
Figure 5: Screenshot of the General Information displayed on the GEN2PHEN Knowledge Centre
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3.3 Reporting tool In order to facilitate the reporting of dissemination activities done throughout the project an online tool has been developed. Through an electronic form, available from the knowledge Centre, partners can continually report activities performed. Nevertheless, partners will still be reminded by email to submit their activities every 3 months. The electronic form consists of both mandatory and not-mandatory information. The mandatory information includes a title, status of the activity (ongoing, completed, planned, etc.) and audience variety. Another group of fields provides a big range of optional information that can be attached, for example in the case of publications the Digital Object Identifier (DOI) number can be added, abstract, external links and related documents can be attached as well.
Figure 6. Electronic reporting form for dissemination activities
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Activities reported through the online form are submitted to the control of moderators who are responsible to check if information is complete, misspellings and following up on its status. After the activities are validated and completed, moderators can publish the activities to the general public (in the home page of the Knowledge Centre) or for partners only (in the partner’s zone), always respecting partners’ right to decide if information should be disclosed or not. Scientific publications are also reported directly to the European Commission through the SESAM application. Partners have been instructed on all the details of this new reporting procedure in a presentation during the last General Assembly meeting. A small tutorial is available on the Knowledge Centre (see Annex VI). The implementation of this new system will be made effectively after the first trial in January 2010. A simplified workflow is given below:
1. Partner report activities in the Knowledge
Centre
2. Moderators review and validate activities
Moderators
3. Moderators are able to further disseminate activities and report to the EC
Partners
European Commission
Public
Figure 7: GEN2PHEN dissemination reporting workflow.
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ANNEXES Annex I – GEN2PHEN brochure
Front page/ Back page of the GEN2PHEN brochure
Inside pages of the flyer
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Annex II – LSDBs Solutions Brochure
Front page/ Back page of the flyer
Inside pages of the flyer
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Annex III – GEN2PHEN- Knowledge Centre Brochure
Front and back covers of the Knowledge Centre flyer
Inside pages of the Knowledge Centre flyer
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Annex IV – GEN2PHEN Poster
GEN2PHEN poster
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Annex V – GEN2PHEN- Knowledge Centre Poster
GEN2PHEN Knowledge Centre Poster
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Annex VI– Tutorial: how to use the reporting tool for dissemination activities
Step 1. Accessing the Knowledge Centre - Partners have to open the online reporting form from the Knowledge Centre. After registering in the website, the web administrator has to grant access to the Partner’s zone; this procedure usually takes a day and requires no action from partners. Once partners have been granted access a confirmation is sent via email. After logging in, the form can be found by selecting the option “add dissemination activity” from the menu of the partners’ zone main web page or at the link (available for partners only): http://www.gen2phen.org/node/add/dissemination
Figure 1. Screenshot of partners’ zone
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Step 2. Opening the web form. The general aspect of the form is shown below:
Figure 2. General aspect of the online form
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Step 3. Filling in the “title” and “description”. Partners may now type in the general information of the dissemination activity. A title and a short description can be added as in the example given below. Mandatory fields are signed with a star symbol. Title: Major European project to create new knowledge base of gene-disease relationships. Description: A media article has been published on the local media, describing the project and its main objectives.
Title*
Major European project to create new knowledge base of gene-disease relationships.
A media article has been published on the local media, describing the project and its main objectives.
Description
Figure 3. Adding “title” and “body” of the dissemination activity.
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Step 4. Filling in “General information”. Some additional basic information is requested: Period Location Type of activity, to be chosen from the following options: - paper - poster - presentation - workshop - other Audience involved: - Scientific - Medical/ Clinical - Other
Date & Place
Status*
Type of activity*
Audience*
Figure 4. Adding details about the activity.
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Step 5. Additional information. Partners might choose to add a small publishable abstract, and add links to related websites and the Digital Identifiable Object number (DOI). A field devoted for the description of the full quotation is also available. Relevant files in several formats can be added and also any other necessary comments. A contact name is required, in case further explanations are needed.
Figure 5. Adding abstract, links and uploads.
Search files
Figure 6. Attaching files
Figure 7. Comment and contact name fields.
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Step 6. Previewing the information. The information provided can be previewed for review prior to submission, by clicking on the preview button.
Figure 8. Previewing the information
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Step 7. Submitting the activity created. Information is submitted to the moderators when clicking on the “save” button.
Figure 9. Saving the information.
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Step 8. Moderators’ review. Submitted activities are sent automatically to moderators. Moderators are responsible for checking is the information related to the activity is complete and accurate. A screenshot shown below illustrates the message warning partners that the activity will be reviewed, before being published on the Knowledge Centre (if and when applicable).
Figure 10. Screenshot of the page shown to partners after submission of activities.
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Annex VII– Dissemination Activities List 1
No Title Date Institutions involved Type of activity Audience Scientific Medical / Clinical General Public Status DOI
1
Major European project to create new knowledgebase of gene-disease relationships January-08 Major European project to create new knowledgebase of gene-disease relationships. January-08 La Fundació IMIM gestionará el Proyecto GEN2PHEN, financiado con 12 millones de euros. Major European Project To Create New Knowledge Base Of GeneDisease Relationships. EU Consortium aims to coordinate rising number of genotype/phenotype databases. Internet pour cataloguer et étudier les variations génétiques. 22nd Immunogenetics and histocompatibility conference -
ULEIC
News Article / Press Release
C
2
PHENO
News Article / Press Release News Article / Press Release
Scientific Commercial, media Scientific Medical / Clinical
Pb
http://dx .doi.org/
3
January-08
FIMIM
Communication General tool Public
C
4
January-08
ULEIC
News Article / Press Release
Scientific
Pb
http://dx .doi.org/
5
February08
ULEIC FIMIM
News Article / Press Release
Scientific
Pb
http://dx .doi.org/
6
March-08
ULEIC FIMIM
News Article / Press Release
Scientific
Pb
7
1
April-08
INSERM
Poster
Scientific
C
The status of each activity is indicated using one of the following codes: C = completed, P = planned, Pb = published, S = submitted, I = in preparation, O =ongoing, ¢ = cancelled
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No Title Eurovillage special session
Audience
Status
DOI
8
9
Annual Meeting of the German Society of Human Genetics Joint meeting with the mouse and rat communities
Poster April-08 PHENO EMBL ULEIC EMBL brochure distribution Scientific C
April-08
Meeting
Scientific
C
10 ELIXIR meeting
April-08
HGVBASE-G2P: a central genetic association study 11 database. GEN2PHEN: An international effort towards the universal databasing of genedisease 12 relationships. Thought Leader Session' of the Commercial conference series "HIMSS WoHIT 08 Conference and 13 Exhibition GEN2PHEN Project - Harnessing the 14 Web for Genomics. Bioinformatics and Systems Biology: Collaborative Research and 15 Resources.
May-08
ULEIC EMC FIMIM INSERM LUMC ULEIC UNIMAN BCP PHENO
Meeting
Scientific
C
Meeting Poster
Scientific
C
May-08
ULEIC PHENO
brochure distribution
Scientific
C
November08
ULEIC
Presentation News Article / Press Release
Scientific, Commercial Medical / Clinical
C
March-08
ULEIC
Pb
http://dx .doi.org/
June-08
Book
Scientific
C
http://dx .doi.org/
© Copyright 2010 GEN2PHEN Consortium
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No Title
Audience Scientific, Commercial Scientific
Status
DOI
16 Mousepads Genotype-toPhenotype databases: a holistic 17 solution.
April-08
PHENO
Other
C
http://dx .doi.org/ http://dx .doi.org/
April-08
FIMIM
dissemination tool
Medical / Clinical
C
18 research*eu
October-09
FIMIM
News Article / Press Release
19 GEN2PHEN logo
February08
FIMIM FIMIM
Other
Scientific Scientific Medical / Clinical General Public Scientific/ Commercia/ General Public
¢
http://dx .doi.org/
C
GEN2PHEN public 20 website Major European project to create new knowledgebase of gene-disease 21 relationships. From genotype to 22 phenotype. International Symposium on Integrative 23 Bioinformatics. The Phenotype And Genotype Experiment Model (PaGE): A Robust Data Structure For Information Related 24 To DNA Variation. Genotype– phenotype 25 databases:
March-08
ULEIC
Other
C
February08
PHENO
News Article / Press Release News Article / Press Release Paper Poster
Scientific
Pb
http://dx .doi.org/ http://dx .doi.org/
March-08
PHENO FIMIM
Scientific
Pb
August-08
ULEIC
Scientific
¢
March-08
ULEIC
Paper
Scientific
¢
http://dx .doi.org/
10.1038/ nrg2483
March-08
ULEIC
Paper
Scientific
Pb
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No Title challenges and solutions for the post-genomic era. LIFEGRID Bases de données dans les maladies rares (Databases for rare 26 genetic diseases) Databases and genetic diseases: towards a medical annotation of the 27 genome Annual Conference of the Spanish Health Informatics 28 Society (SEIS)
Audience
Status
DOI
March-08
INSERM
Presentation
Scientific
C
http://dx .doi.org/
March-08
INSERM
Presentation
Medical / Clinical
C
http://dx .doi.org/ http://dx .doi.org/
April-08
UAVR
Presentation
Scientific
C
Design of microarray probes for detection of 29 mutations.
June-08
UAVR
Paper
Scientific
Pb
10.1109/ BIOTEC HNO.20 08.39
A Microarray Information 30 Database. Studying the evolution of codon context in conserved gene 31 sequences.
June-08
UAVR
Paper
Scientific
Pb
10.1109/ BIOTEC HNO.20 08.22
June-08
UAVR
Abstract
Scientific
C
10.1109/ BIOTEC HNO.20 08.18
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No Title
Audience
Status
DOI
P3G General 32 Meeting Human Genome Variation Society 33 Meeting International Meeting on Human Genome Variation and Complex 34 genome Analysis GEN2PHEN project 35 brochure UHTS Sequencing 36 standards workshop MIBBI workshop on standards for 37 Biomedical domain
May-08
ULEIC
Presentation Conference sponsorship
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
May-08
ULEIC
Scientific
C
October-08
ULEIC
Conference
April-08 April-08
FIMIM ULEIC
Scientific Scientific Communication Medical / tool Clinical Workshop Scientific
C
C C
April-08
EMBL FIMIM
Workshop
Scientific
C
GEN2PHEN 38 Newsletter 13th International Human Genome 39 Meeting GEN2PHEN web based project to capture health & disease genetic 40 knowledge. Tracing biological collections: between books and clinical 41 trials. The Challenges in the Data Management and analysis workflows of the large 42 genotype-to-
April-08 September08
ULEIC CSIR ULEIC
Scientific Communication Medical / tool Clinical Abstract Presentation Scientific Scientific News Article / Press Release General Public
C
C
January-08
ULEIC
Pb 10.1001/j ama.299 .19.2316
April-08
INSERM
Paper
Scientific
Pb
May-08
BCP
Presentation
Medical / Clinical
C
http://dx .doi.org/
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No Title phenotype projects data.
Audience
Status
DOI
GA2LEN press release on JAMA 43 article Tracing biobanks: EU researchers propose identifying DNA collections 44 similar to books.
FIMIM May-08 INSERM News Article / Press Release Scientific Scientific, Media, general public Scientific Medical / Clinical Scientific C
http://dx .doi.org/
May-08
FIMIM
News Article / Press Release
C
Participation in the 45 BBMRI expert group October-09 Clustering with 46 CASIMIR project October-09
ULEIC EMBL ULEIC
meeting meeting Poster
C C
British Society for Human Genetics September47 Annual Conference 08 The 6th International BioData Interoperability 48 Conference October-08
PHENO CSIR ULEIC
brochure distribution
Scientific
C
Meeting brochure distribution
Scientific
C
49 Brochure mailing À l'orée d'une nomenclature 50 mondiale.
August-08
FIMIM
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
August-08
INSERM
News Article / Press Release
Scientific
Pb
Federation of Biochemical 51 societies course
September08
ULEIC
Presentation
Scientific
C
http://dx .doi.org/
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No Title
Audience
Status
DOI
Poster on 52 HGVbaseG2P
September08
ULEIC
Poster
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
Model Organism September53 Database workshop 08
ULEIC
Presentation
Scientific
C
Presentation at 54 BBMRI meeting Oral presentation, & participation in 55 networking meeting
September08 November08 November08
deCODE
Presentation
Scientific Scientific authorities Scientific authorities
C
http://dx .doi.org/
ULEIC EMBL ULEIC PHENO
Presentation
C
56 Expert Witness
Presentation
C
Brochure 57 distribution Brochure 58 distribution Oral presentation of LOVD-based Osteogenesis 59 Imperfecta LSDB
September08 October-09
UNIMAN CSIR
Meeting brochure distribution
Scientific Scientific
C C
http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/
October-08
ULEIC
Presentation
Scientific
C
60 Project presentation International Congress of 61 Genetics, Berlin International Congress of Genetic Epidemiology 62 Society, IGES
November08
PHENO
Presentation
Scientific
C
July-08
BCP
brochure distribution
Scientific
C
September08
BCP
brochure distribution
Scientific
C
http://dx .doi.org/
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Date November08 Institutions involved BCP Type of activity Presentation brochure distribution
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No Title Estonian Biocenter 63 fall workshop
Audience
Status
DOI
Scientific Scientific Medical / Clinical
C
American Society of November64 Human Genetics 08 E-Epidemiology Adapting epidemiological data collection to September65 the 21st century. 08 Dynamic Service Integration using Web-based 66 Workflows. Clinical Genetics & General variation 67 (Chair)
http://dx .doi.org/ http://dx .doi.org/
BCP
C
KI
Presentation
Medical / Clinical
C
http://dx .doi.org/
doi.acm. org/10.1 145/149 7308.14 97426
November08 November08
Paper UAVR Presentation Scientific Pb
INSERM INSERM
Presentation Presentation
Scientific Scientific
C C
Human Variome November68 Project 08 Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature 69 checker. July-08 Medical genomics: the present impact and future issues of 70 new technologies Developing an LSDB using the 71 LOVD suite. Web-based collection of genespecific sequence variants and their phenotypic 72 consequences
http://dx .doi.org/ http://dx .doi.org/
LUMC
Poster
Scientific
C
http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/
September08
LUMC
Presentation
Scientific
C
October-08
LUMC
Presentation Poster
Scientific
C
November08
LUMC
CDs distribution
Scientific
C
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No Title Facilitating DNA diagnostics by collecting human disease gene variation using an open source LSDBin-a-Box platform – 73 LOVD 2.0 LSDBs, ethics and 74 data sharing. Conférence on "Etapes relatives à l’éthique de projets en sciences de la 75 vie" Workshop on ethics 76 in GWAS
Audience
Status
DOI
March-08 November08
LUMC
Poster
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
INSERM
Presentation
Scientific Scientific academic in law and ethics Scientific authorities
C
July-08 July-08
INSERM INSERM
Presentation Workshop
C C
Enjeux de la medecine 77 prédictive. Promoting the use of biobank resources: the challenges of exchanges and 78 exchange policies 79 Forum Discussions Meeting organised for coordinating activities related to biobanking (samples and databases at EU 80 level) Conference for Lycée on "Human 81 diversity"
September08
INSERM
interview, exibition, video
General Public
C
http://dx .doi.org/
November08 November08
INSERM INSERM
Presentation Meeting
Scientific Scientific authorities Scientific
C C
http://dx .doi.org/
November08
INSERM
Workshop
authorities
C
December08
INSERM
Presentation
General Public
C
http://dx .doi.org/
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No Title
Audience
Status
DOI
Oral presentation of HGVbaseG2P and September08 82 GEN2PHEN Oral presentation of HGVbaseG2P and 83 GEN2PHEN Oral presentation of HGVbaseG2P and 84 GEN2PHEN Oral presentation of HGVbaseG2P and 85 GEN2PHEN
ULEIC
Presentation
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
October-08
ULEIC UH.FGC
Presentation
Scientific
C
October-08
ULEIC
Presentation
Scientific
C
December08
ULEIC
Presentation
Scientific
C
http://dx .doi.org/
86
87
88
89
HGVbaseG2P: a Central Genetic Association Database. January-09 The Phenotype and Genotype Experiment Object Model (PaGE-OM): A robust data structure for information related January-09 to DNA variation. GEN2PHEN: an international effort to optimise and federate the databasing of geneFebruarydisease 09 relationships. GEN2PHEN knowledge center: a vitual centre of excelence for the genotype-toFebruaryphenotype 09 community.
ULEIC CSIR UH.FGC ULEIC UWC
Paper
Scientific
Pb
10.1093/ nar/gkn7
Paper
Scientific
Pb
10.1002/ humu.20 973
Abstract
ULEIC
Presentation
Scientific
Pb
Abstract ULEIC Poster Scientific Pb
HGVBase-G2P: an advanced database for the integration of genetic association 90 study datasets.
February09
Abstract ULEIC Poster Scientific Pb
http://dx .doi.org/
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No Title EBI, ENSEMBL and LSDB data integration. Ethical issues and subsequent governance in the GEN2PHEN project. GRID-Enabling G2P association studies: a knowledge discovery scenario. New Interactive Web server for analysis of Indian genome variation data.
Audience
Status
DOI
91
February09
92
February09
http://dx .doi.org/
Abstract Abstract Poster Scientific Scientific Other Pb S
93
February09
94
February09 March-09 February09
CSIR ULEIC FIMIM LUMC INSERM
Abstract meeting Other
Scientific Scientific authorities Scientific
Pb C I
http://dx .doi.org/
GEN2PHEN fliers 95 taken to Brussels. 96 Specific Brochure Harmonising biobank research: maximising value, 97 maximising use.
March-09
Planning the Human Variome Project: December08 98 The Spain Report.
ULEIC EMBL EMC FIMIM INSERM LUMC ULEIC
Presentation
Scientific
C
Paper
Scientific
Pb
Integration of genotype to phenotype data on 99 rare diseases.
Workshop May-09 UAVR brochure distribution Scientific C
Concertation 100 meeting
March-09
FIMIM
Meeting
Scientific
C
http://dx .doi.org/
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved Type of activity
Security: PU Version:
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No Title
Audience
Status
DOI
Gen2Phen 101 webpage
December08
UNIMAN
Link to Website Scientific
O
http://dx .doi.org/
Clinical Bioinformatics 102 Survey Clinical Molecular Genetics Society 103 Spring Meeting UNIMAN/ NGRL 104 News 105 Radio broadcast ARABELLA - A Directed Web 106 Crawler. Discovery of Genotype-toPhenotype Associations: A Grid-enabled Scientific Workflow 107 Setting. Supporting Genotype-toPhenotype Association Studies with Grid-enabled Knowledge Discovery 108 Workflows. Identifying Users And Contributors On The Biomedical 109 Internet. The Locus Reference Genomic (LRG) DNA 110 Sequence Format.
March-09
UNIMAN
News Article / Press Release
Scientific, Commercial
O
http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/
March-09
UNIMAN
Presentation News Article / Press Release
Scientific, Commercial Scientific, Commercial
C
March-09 March-09
UNIMAN UAVR
I C
General Radio interview Public Paper
April-09
UAVR
Poster
Scientific
P
April-09
FORTH
Paper
Scientific
Pb
http://dx .doi.org/
September09
FORTH
Paper
Scientific
Pb
http://dx .doi.org/
February09
Abstract ULEIC Poster Abstract Scientific Pb
May-09
ULEIC
Poster
Scientific
Pb
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved INSERM May-09 November08 September08 December08 ULEIC BIOBASE Type of activity Abstract Poster Presentation Scientific Scientific Pb C
Security: PU Version:
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No Title The status of genetic information in health systems: a 111 European view. Pathways in 112 Proteomics Network Biology of 113 Cell Differentiation. Building a knowledge base for 114 systems pathology.
Audience
Status
DOI
http://dx .doi.org/ http://dx .doi.org/
10.1093/ bib/bbn0 38
BIOBASE
Presentation
Scientific
C
BIOBASE
Paper
Scientific
Pb
Explaining Gene Regulation with 115 Systems Biology. Phenotype modelling workshop. Meeting with potential collaborators on a variant database project. The Gen2Phen project: Collecting gene sequence variants and their phenotypic consequences in web-based LSDBs for Mendelian disorders. The Gen2Phen project: Collecting gene sequence variants and their phenotypic consequences in web-based LSDBs for Mendelian disorders.
February09
BIOBASE
Presentation
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
116
May-09
SIB
Workshop
Scientific
C
117
April-09
SIB
Meeting
Scientific, Commercial
C
http://dx .doi.org/
118
May-09
LUMC
Abstract
Scientific
Pb
http://dx .doi.org/
119
April-09
LUMC
Poster
Scientific
Pb
http://dx .doi.org/
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved Type of activity
Security: PU Version:
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HEALTH-200754
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No Title Collecting gene sequence variants and their phenotypic consequences in web-based LSDBs for Mendelian 120 disorders. 121 Oral presentation 122 Oral presentation Plant and Animal Genome XVII 123 Conference Data Integration between LSDBs 124 and the EBI Data Integration between LSDBs and the EBI Identifying Researchers on the Biomedical Web (IRBW2009). Human Splicing Finder: an online bioinformatics tool to predict splicing signals. UMD-predictor, a new prediction tool for nucleotide substitution pathogenicityapplication to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Genotypephenotype analysis in 2,405 patients with a dystrophinopathy using the UMDDMD database: a
Audience
Status
DOI
April-09 April-09 April-09
LUMC LUMC LUMC
Abstract Presentation Presentation brochure distribution
Scientific Scientific Scientific Scientific, Commercial
Pb C C
http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/
January-09
BCP
C
January-09
EMBL
Presentation
Scientific
C
125
January-09
EMBL
Presentation
Scientific
C
126
May-09
ULEIC
Workshop
Scientific
C
127
April-09
INSERM
Paper
Scientific
Pb
http://dx .doi.org/
128
January-09
INSERM
Paper
Scientific
Pb
http://dx .doi.org/
129
January-09
INSERM
Paper
Scientific
Pb
http://dx .doi.org/
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved Type of activity
Security: PU Version:
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HEALTH-200754
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No Title model of nationwide knowledgebase. Set-up of international collaborations to build LSDBs for genes involved in Congenital Muscular 130 Dystrophies Grid-enabling G2P association studies: a knowledge 131 discovery scenario.
Audience
Status
DOI
April-09
INSERM
Workshop
Scientific
C
http://dx .doi.org/
September09
FORTH
Paper
Scientific
S
Networking. Link to 132 PhenX. Researcher 133 Identification The 11th International Meeting on Human Genome Variation and Complex Genome Analysis 134 (HGV2009) L’information génétique dans la société de 135 l’information. The status of genetic information in health systems: a 136 European view. The biology of 137 genomes meeting.
May-09
ULEIC
Networking
Scientific
P
http://dx .doi.org/ http://dx .doi.org/
April-09
ULEIC
Website
Scientific
C
September09
ULEIC
Conference
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
June-09
INSERM
Paper
Scientific
Pb
Abstract May-09 May-09 INSERM INSERM Presentation Conference Scientific Scientific Pb Pb
http://dx .doi.org/
The status of the genetic information 138 in society.
March-09
INSERM
Workshop
Scientific
Pb
http://dx .doi.org/
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved Type of activity
Security: PU Version:
v1.4 – Final
HEALTH-200754
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No Title
Audience
Status
DOI
Collective authorship and 139 microattribution. European Society of Human Genetics 140 Conference. Tests génétiques: quels sont les risques du libre 141 accès?
May-09
INSERM
Presentation
Scientific
C
May-09
PHENO
brochure distribution
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
June-09
INSERM
Paper
Scientific
Pb
Ethical issues in genotype to 142 phenotype domain.
June-09
INSERM
Presentation
Scientific
C
http://dx .doi.org/
Presentation Leiden Open 143 Vartiation Database. June-09 LUMC brochure distribution Scientific C
EBI Genotype & Phenotype 144 Resources.
June-09
EMBL
Presentation
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
Generating flexible 145 data infrastructures GEN2PHEN: An international effort to optimise and federate the databasing of genedisease 146 relationships. European Society of Human Genetics Conference. 2009 147 May 23-6. 148 4th International
June-09
EMBL
Presentation
Scientific
C
May-09
ULEIC
Presentation
Scientific Scientific
C
http://dx .doi.org/
May-09 June-09
BCP BCP
brochure distribution brochure
Commercial Scientific
C C
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved Type of activity distribution
Security: PU Version:
v1.4 – Final
HEALTH-200754
48/51
No Title Meeting on Genetics of Complex Diseases and Isolated Populations. Building an International Biobanking 149 Community LSDB INTEGRATOR - A Link-based Information Integration 150 Architecture GEN2PHEN: Unifying human and model organism genetic variation 151 databases. 152 Gen2Phen Clinical Bioinformatics 153 survey NGRL progress 155 report The First GEN2PHEN Pilot Project: Documenting the bioinformatics requirements of 155 clinical scientists. Participation to a Radio emission in French (Radio France, France 156 Culture) Discussions about policy for data access in an 157 international context Ethical issues on 158 populations studies
Audience
Status
DOI
Commercial
March-09
KI
Presentation
Scientific
C
http://dx .doi.org/
April-09
UAVR
Paper
Scientific
P
http://dx .doi.org/ http://dx .doi.org/
May-09 April-09
UAVR UNIMAN
Poster brochure distribution News Article / Press Release
Scientific Scientific
I C
http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/
April-09 May-09
UNIMAN UNIMAN
survey Report
Scientific Scientific
C C
Abstract
May-09
UNIMAN
Poster
Scientific
P
May-09
INSERM
General Radio interview Public
C
http://dx .doi.org/ http://dx .doi.org/ http://dx .doi.org/
June-09 June-09
INSERM INSERM
meeting Presentation
Scientific Scientific
C C
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved Type of activity
Security: PU Version:
v1.4 – Final
HEALTH-200754
49/51
No Title Participation on the Steering Committee 159 of BBMRI Ethical/legal aspects of human samples/ data exchanges and 160 banking Biobanking Issues in Human Tissue 161 and Cells
Audience
Status
DOI
June-09
INSERM
meeting
Scientific
C
http://dx .doi.org/
June-09
INSERM
meeting
Scientific
C
http://dx .doi.org/ http://dx .doi.org/
June-09
Ethical, legal and 162 social implications. ESF road mapping 163 meeting. L'information génétique est-elle 164 particulière? Mission d’information sur la révision des lois 165 bioéthiques Describing complex sequence variants 166 by extending HGVS. Exploiting The Full Potential Of Sequence Trace Files For Structural 167 Variation.
June-09
INSERM Presentation INSERM, P3G consortium, The Wellcome Trust Presentation
Scientific
C
Scientific
C
June-09
INSERM
meeting
Scientific
C
July-09
INSERM
July-09
INSERM
Scientific Scientific General Public Meeting, Video authorities
Workshop
C
C
May-09
LUMC
Abstract
Scientific
Pb
May-09
ULEIC
Abstract
Scientific
Pb
Biobanking strategy September168 meeting. 09 ‘Café RouGE’: Automated Release and Open Distribution of Diagnostics September09 169 Laboratory Mutation
ULEIC
Presentation
Scientific
C
PHENO
Poster
Scientific
C
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved Type of activity
Security: PU Version:
v1.4 – Final
HEALTH-200754
50/51
No Title Data.
Audience
Status
DOI
Integration of Variome Data Through a Link 170 Discovery Strategy Meeting with the Interactive Biosoftware 171 company
November09
UAVR
Poster
Scientific Scientific
P
July-09
INSERM
meeting
Commercial
C
RNA splicing and genetic diseases September172 Prediction tools. 09 Developing an application ontology for annotation of experimental variables – Experimental Factor 173 Ontology. July-09 CMGS Trainee 174 meeting October-09
INSERM
Workshop
Scientific
C
EMBL UNIMAN
Poster meeting
Scientific Scientific
P P
10.1038/ npre.200 9.3806.1
NGRL progress 175 report 176 NGRL Newsletter Describing complex sequence variants 177 by extending HGVS Genes, mutations 178 and disease Gene variant databases and possibilities with 179 LOVD.
November09 November09
UNIMAN UNIMAN
Report News Article / Press Release
Scientific Scientific
P P
June-09 September09
LUMC
Abstract
Scientific
P
LUMC
Presentation Presentation
Scientific
P
September09
LUMC
meeting
Scientific
C
© Copyright 2010 GEN2PHEN Consortium
D9.2 Report on the GEN2PHEN Deployment of Communication Tools
WP9: Dissemination, Use And Future Sustainability Author(s): E. Molero (FIMIM), A. Reiche (FIMIM), A. Webb (ULEIC)
Date Institutions involved Type of activity
Security: PU Version:
v1.4 – Final
HEALTH-200754
51/51
No Title Describing complex sequence variants by extending HGVS sequence variation 180 nomenclature. The EU-India S&T 181 Cooperation Days 182 PaGE-OM meeting 2nd GEN2PHEN Domain Modelling 183 Workshop Meeting with MUTbase 184 developers Drafting a strategy for hub and spokes 185 structure.
Audience
Status
DOI
November09 November09 June-09
UH.FGC
CSIR UH.FGC SANBI EMBL
Abstract meeting; brochure distribution meeting
Scientific
S
Scientific Scientific
P P
January-09
UH.FGC UH.FGC U. of Tampere UH.FGC, P3G consortium
Workshop
Scientific
P
March-09 September09
meeting
Scientific
C
Presentation
Scientific
C
Object Modeling in 186 Gen2phen. October-09 American Society of Human Genetics (ASHG) meeting 187 2009 October-09
UH.FGC
Presentation
Scientific
P
BCP
brochure distribution
Scientific
C
© Copyright 2010 GEN2PHEN Consortium
This document is © 2010 by acaciareiche - all rights reserved.
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© 2009
GEN2PHEN Project
.
The
GEN2PHEN Knowledge Centre
has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013)
under grant agreement number 200754 - the GEN2PHEN project.