Risultati finali
Report on ethicolegal issues relevant to the participation of EUCANCan member projects in Spain Germany and other relevant Member States including a description of requirements in German Spanish and EU legislation to share health data for EUCANCans purposes of the project
Definition of global and local needs regarding storing solutions for raw data from oncological patients, and the different levels of security required for personalised medicine environmentsReporting of the specific needs of each data producing site/partner, the different profiles of user communities and their level of data access. Integrate ethical and legal solutions described in WP6 for the different levels of protection
Policy working group briefings, summary reports_1Briefing documents that were prepared for the health policy group, and documentation of regular meetings and progress
Policy working group briefings, summary reports_3Briefing documents that were prepared for the health policy group and documentation of regular meetings and progress
Ethico-legal points to consider for future international research collaborations to study other diseasesGeneralized guidance to assist future data-driven cancer and medical research initiatives, on topics such as when genomic analysis may be considered a medical device, and thus subject to additional regulatory requirements, and on the difference between anonymization and pseudonymization and its application to concrete circumstances such as the sharing of somatic or germline variants.
File-level federated query system back endDesign and implement a pilot version of data query and retrieval systems within EUCanCan federated network. Adaptation to data types and formats defined in WP5.
Description of the different formulas of connecting these infrastructures into each regional health care system"EUCANCan trial locator Website with a search tool for genomics-driven clinical trials across EUCANCan sites plus information on Website visits over the period M42-M48"" and ""Framework of the standardised genomics report designed to facilitate therapeutic decision plus feedback from clinical users (molecular tumor board participants) on its usefulness in real-life practice over the period M42-M48"
Tools reportBest practices including tools, parameters and workflows to analyse the different types of data (just a report, no code at this stage) along with validated and annotated datasets for different use cases (variant calling, RNA-seq analysis, etc.).
Policy working group briefings, summary reports_2Briefing documents that were prepared for the health policy group and documentation of regular meetings and progress
Communication planGuidelines for communication, including key messages, main target audiences, most suitable communication channels, rules to be followed, and a social media strategy
EUCANCan Exploitation PlanOverview document listing the Key Exploitable results of the project and responsible partners, including planned exploitation timelines and pathways (to be updated with each periodic report)
Description and implementation of exchange of genomics dataThe investigated and defined exchange formats for genomics data within EUCANCan will be formulary described Based on the chosen standard the API for the exchange will be defined implemented and reported
Canadian ethico-legal constraints and considerations reportReport on ethico-legal constraints and considerations for Canadian projects in receiving data transfers according to the EU General Data Protection Regulation, and sharing and processing data according to Canadian personal information protection law
Protocols for using cloud infrastructures within EUCANCanDefinition of computing environments hardware and software optimal for EUCanCan analysis pipelines and transfer protocols Identification of data and access security protocols according to WP6
Protocols for deploying tools and pipelines locallyIdentify points of integration of eventual storage solutions locally Adaptation of one end to each site according to their needs
Metrics for evaluation of the new pipelines and new release of the pipelines with updated tools and parametersFrom the reference datasets provided in D21 quality metrics such as sensitivity true positive rate or recall and specificity the true negative rate will be reported for the different pipelines Pipelines with new tools and new parameters will be implemented to improve these quality metrics
Guidance to enable the sharing of clinical data within the EUCANCan projectThis will include a description of the safeguards implemented by EUCANCan to ensure that technical and organisational measures are in place for the processing of data as well as the obligations of parties involved in the data processing
Description and implementation of clinical data types and formats for the sharing of datasets within EUCANCanDescription of the data attributes in the two tier system of clinical annotation (first mandatory baseline clinicopathological data, second minimal follow-up and outcome information) and their implementation as a consensus across sites for the sharing of datasets within EUCANCan
Description of the integration and report describing the whole process, including data generation and management. Evaluation of the interoperability between EUCANCan nodesIt will be shown in a report how the EUCANCan participation sides providing genomics and clinical data have implemented the exchange requests and API as well as how the data exchange operates functionally
Project Management and Quality GuidelinesThis deliverable will describe the project’s internal management procedures, detailing the project’s Quality assurance process as well as a detailed Risk evaluation and internal communication tools and mechanisms.
Implement functional versions of software for data transfer in and out of storing systems
Final version 2.0 of variant-level indexing and retrieval system for EUCANCanGenerate and implement systems for data indexing and access at the level of single variant, and other molecular features.
Software packages with the pipelines able to run within the informatics infrastructure developed in WP3Stateoftheart pipelines provided in D21 and D22 will be implemented according to harmonised guidelines using best practises of software engineering Portable informatics scripts will be packaged allowing the installation and running of the pipelines within the EUCANCan informatics infrastructure
Automated tools to filter and prioritize both genomic and somatic alterations to support decision making during tumour boardsA list of analysis tools parameters and databases to compute scores to classify the variants to assess their potential functional impact within the tumor and their druggability will be provided Bioinformatics scripts will be implemented and integrated within the general analysis pipelines to automatically compute these scores
Deployable version of EUCANCan data portal, providing search and discovery services for data sets stored at EUCANCan nodesGenerate a version of a web service for data searches and access, within and outside the EUCanCan consortium, according to the guidelines for data embargos and protection defined throughout the project.
Final version of EUCANCan variant extraction and annotation toolIdentify the best solutions to replicate and align strategies for the calling and interpretation of somatic and germline variants (SNVs, indels, SVs and CNV) for a concordant and homogeneous sharing of genomic information across EUCANCan nodes. These strategies will be also aligned with current efforts to standardize protocols for genomic analyses in biomedicine (GA4GH and ELIXIR).
Final version of enhanced portal, providing access to variant-level dataDefinition and implementation of the final version of the accession portal. Data will be made available and searchable through this portal.
Corporate identity will be developed, and dissemination materials as well as templates to be used for presentations, reports, meeting- and internal documents
Public project websiteTo showcase the project’s activities and results both to the scientific community as well as to the public at large
Pubblicazioni
Autori:
Fabrice Allain; Julien Roméjon; Philippe La Rosa; Frédéric Jarlier; Nicolas Servant; Philippe Hupé
Pubblicato in:
Open Research Europe, 2021, ISSN 2732-5121
Editore:
F1000
DOI:
10.12688/openreseurope.13861.1
Autori:
Fruzsina Molnár-Gábor, Michael J S Beauvais, Alexander Bernier, Maria Pilar Nicolas Jimenez, Mikel Recuero, Bartha Maria Knoppers
Pubblicato in:
Journal of Medical Internet Research, 2022, ISSN 1438-8871
Editore:
Journal of medical Internet Research
DOI:
10.2196/37236
Autori:
Alfredo Rivas-Delgado, Ferran Nadeu, Anna Enjuanes; Sebastián Casanueva-Eliceiry, Pablo Mozas, Laura Magnano; Natalia Castrejón de Anta; Jordina Rovira; Ivan Dlouhy; Silvia Martín; Miguel Osuna; Sonia Rodríguez; Marc Simó; Magda Pinyol; Tycho Baumann; Silvia Beà Olga Balagué; Julio Delgado; Neus Villamor; Xavier Setoain; Elías Campo Eva Giné; Armando López-Guillermo
Pubblicato in:
Clinical Cancer Research, 2021, ISSN 1078-0432
Editore:
American Association for Cancer Research
DOI:
10.1158/1078-0432.ccr-20-2558
Autori:
Cynthia Mbuya-Bienge , Nora Pashayan, Jennifer D. Brooks, Michel Dorval, Jocelyne Chiquette,
Laurence Eloy, Annie Turgeon, Laurence Lambert-Côté , Jean-Sébastien Paquette ,
Emmanuelle Lévesque , Julie Hagan , Meghan J. Walker , Julie Lapointe , Gratien Dalpé,
Palmira Granados Moreno , Kristina Blackmore, Michael Wolfson, Yann Joly, Mireille Broeders ,
Bartha M. Knoppers , Anna M. Chiarelli ,
Pubblicato in:
Journal of Personalized Medicine, 2021, ISSN 2075-4426
Editore:
MDPI
DOI:
10.3390/jpm11020095
Autori:
Chen Hong, Robin Thiele and Lars Feuerbach
Pubblicato in:
Bioinformatics, 2022, ISSN 1367-4811
Editore:
Oxford Academic
DOI:
10.1093/bioinformatics/btac037
Autori:
Kieran C. O’Doherty, Mahsa Shabani, Edward S. Dove, Heidi Beate Bentzen, Pascal Borry,
Michael M. Burgess, Don Chalmers, Jantina De Vries, Lisa Eckstein, Stephanie M. Fullerton,
Eric Juengst, Kazuto Kato, Jane Kaye, Bartha Maria Knoppers, Barbara A. Koenig, Spero M. Manson,
Kimberlyn M. McGrail, Amy L. McGuire, Eric M. Meslin, Dianne Nicol, Barbara Prainsack, Sharon F. Terry,
Adrian Thorogood an
Pubblicato in:
Nat Genet, 2021, ISSN 1061-4036
Editore:
Nature Publishing Group
DOI:
10.1038/s41588-020-00742-6
Autori:
Miranda D. Stobbe; Abel Gonzalez-Perez; Nuria Lopez-Bigas; Ivo Glynne Gut
Pubblicato in:
PLOS COMPUTATIONAL BIOLOGY, 2022, Pagina/e e1010546, ISSN 1553-7358
Editore:
Public Library of Science
DOI:
10.1371/journal.pcbi.1010546
Autori:
Fruzsina Molnar-Gabor, Julian Sellner, Sophia Pagil, Santa Slokenberga,
Olga Tzortzatou-Nanopoulou, Katarina Nystrom
Pubblicato in:
Seminars in Cancer Biology, 2022, ISSN 1044-579X
Editore:
Academic Press
DOI:
10.1016/j.semcancer.2021.12.001
Autori:
Mikel Recuero Linares
Pubblicato in:
RBD. Revista de Bioética y Derecho, Numero 2, 2020, ISSN 1886-5887
Editore:
Spain
DOI:
10.1344/rbd2020.50.31711
Autori:
Jasper Bovenberg David PeloquinBarbara BiererMark Barnesand Bartha Maria Knoppers
Pubblicato in:
Science, 2021, ISSN 0036-8075
Editore:
American Association for the Advancement of Science
DOI:
10.1126/science.abf5425
Autori:
Jose Espejo Valle-Inclan, Nicolle J.M. Besselink, Ewart de Bruijn, Daniel L. Cameron, Jana Ebler, Joachim Kutzera, Stef van Lieshout, Tobias Marschall, Marcel Nelen, Peter Priestley, Ivo Renkens, Margaretha G.M. Roemer, Markus J. van Roosmalen, Aaron M. Wenger, Bauke Ylstra, Remond J.A. Fijneman, Wigard P. Kloosterman, Edwin Cuppen,
Pubblicato in:
Cell Genomics, 2022, ISSN 2666-979X
Editore:
Elsevier
DOI:
10.1016/j.xgen.2022.100139
Autori:
Alexander Bernier, Fruzsina Molnár-Gábor, Bartha M. Knoppers, Pascal Borry, Priscilla M. D. G. Cesar, Thijs Devriendt, Melanie Goisauf, Madeleine Murtagh, Pilar Nicolás Jiménez, Mikel Recuero, Emmanuelle Rial-Sebbag, Mahsa Shabani, Rebecca C. Wilson, Davide Zaccagnini and Lauren Maxwell
Pubblicato in:
European Journal of Human Genetics, 2023, ISSN 1018-4813
Editore:
Natue Publishing Group
DOI:
10.1038/s41431-023-01403-y
Autori:
Eva Caroline Winkler, Bartha Maria Knoppers
Pubblicato in:
Seminars in Cancer Biology, 2020, ISSN 1044-579X
Editore:
Academic Press
DOI:
10.1016/j.semcancer.2020.09.009
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