Better rEal-world healTh-daTa distributEd analytics Research platform

Informations projet

BETTER

N° de convention de subvention: 101136262

DOI

10.3030/101136262

Date de signature de la CE 10 Novembre 2023

Date de début 1 Decembre 2023

Date de fin 31 Mai 2027

Financé au titre de

• Health

Coût total

€ 9 553 530,00

Contribution de l’UE

€ 9 553 530,00

Coordonné par

DATRIX SPA
Italy

CORDIS fournit des liens vers les livrables publics et les publications des projets HORIZON.

Les liens vers les livrables et les publications des projets du 7e PC, ainsi que les liens vers certains types de résultats spécifiques tels que les jeux de données et les logiciels, sont récupérés dynamiquement sur OpenAIRE .

Livrables

Documents, reports (6)

FAIRification technical report

Documentation of T6.1 workshops outcome and the identified external repositories.

Technical IT setup definition

Release the code repository and the IT best practices and management tools identified in T5.1.

Pseudonymisation report and performances

Report on pseudonymisation techniques developed in T4.2 describing the methodology and the observed performances on real data.

Technical documentation

Publish on the project’s website the technical documentation required to activate the BETTER platform. Including Task 3.5 IT security requirements

Legal, ethical and data protection documentation

A folder with legal, ethical and data protection documents worked in T3.1 will be consolidated, reviewed and published on the project’s webpage.

ELSA-aware Data Science Lifecycle methodology

Document and publish the identified ELSA-aware Data Science Lifecycle methodology.

Data Management Plan (1)

Data management plan

Report detailing the project’s data management plan (T1.5).

Other (1)

Ethics report

Report detailing ethics and privacy management (T1.4).

Websites, patent fillings, videos etc. (1)

Project’s public website, social media presence, leaflet and poster

The project’s website, social media presence and any additional material (e.g. leaflets, posters, t-shirts) to be used for project communication.Please be informed that it is good practice to list the names of all work package leads on the project website.

Publications

Peer reviewed articles (13)

I-ETL: an interoperability-aware health (meta)data pipeline to enable federated analyses

Auteurs: Nelly Barret, Anna Bernasconi, Boris Bikbov, Pietro Pinoli
Publié dans: BMC Medical Informatics and Decision Making, Numéro 25, 2025, ISSN 1472-6947
Éditeur: Springer Science and Business Media LLC
DOI: 10.1186/S12911-025-03188-0

Knowledge Representation of a Multicenter Adolescent and Young Adult Cancer Infrastructure: Development of the STRONG AYA Knowledge Graph

Auteurs: Joshi Hogenboom, Varsha Gouthamchand, Charlotte Cairns, Silvie H.M. Janssen, Kirsty Way, Andre L.A.J. Dekker, Winette T.A. van der Graaf, Anne-Sophie Darlington, Olga Husson, Leonard Y.L. Wee, Johan van Soest, Aiara Lobo Gomes
Publié dans: JCO Clinical Cancer Informatics, Numéro 10, 2026, ISSN 2473-4276
Éditeur: American Society of Clinical Oncology (ASCO)
DOI: 10.1200/CCI-25-00177

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population

Auteurs: Sapir Shalom, Libe Gradstein, Eran Pras, Johanna Valensi, Ohad S. Birk, Anat Blumenfeld, Avital Eilat, Michal Macarov, Tomer Poleg, Frans P. M. Cremers, Susanne Roosing, Daan M. Panneman, Nadin Hollander, Nitza Goldenberg-Cohen, Claudia Yahalom, Eyal Banin, Tamar Ben-Yosef, Dror Sharon
Publié dans: Investigative Ophthalmology & Visual Science, Numéro 67, 2026, ISSN 1552-5783
Éditeur: Association for Research in Vision and Ophthalmology (ARVO)
DOI: 10.1167/IOVS.67.4.24

The promises and pitfalls of automated variant interpretation: a comprehensive review

Auteurs: Mireia Costa, Alberto García S, Ana León, Oscar Pastor
Publié dans: Briefings in Bioinformatics, Numéro 26, 2025, ISSN 1467-5463
Éditeur: Oxford University Press (OUP)
DOI: 10.1093/BIB/BBAF545

Advancing healthcare through data: the BETTER project's vision for distributed analytics

Auteurs: Matteo Bregonzio; Anna Bernasconi; Pietro Pinoli
Publié dans: Frontiers in Medicine, 2024, ISSN 2296-858X
Éditeur: Frontiers
DOI: 10.3389/FMED.2024.1473874

Biallelic Variants in the <scp> <i>DARS2</i> </scp> Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Auteurs: Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau
Publié dans: Annals of Neurology, Numéro 98, 2025, ISSN 0364-5134
Éditeur: Wiley
DOI: 10.1002/ANA.78005

Nutrients

Auteurs: Simona Ferraro; Laura Saielli; Davide Biganzoli; Martina Tosi; Laura Guidi; Roberto Longo; Francesca Severino; Stephana Carelli; Maura Rossi; Livia Pisciotta; Emilia Ricci; Francesca Brustia; Elvira Verduci; Gianvincenzo Zuccotti; Michele Mussap; Cristina Cereda
Publié dans: Nutrients, 2025, ISSN 2072-6643
Éditeur: MDPI
DOI: 10.3390/NU17020274

Toward a fair, gender-debiased classifier for the diagnosis of attention deficit/hyperactivity disorder- a Machine-Learning based classification study

Auteurs: Susanne Neufang, Feifei Li, Atae Akhrif, Oya D. Beyan
Publié dans: BMC Medical Informatics and Decision Making, Numéro 25, 2025, ISSN 1472-6947
Éditeur: Springer Science and Business Media LLC
DOI: 10.1186/S12911-025-03126-0

Molecular Genetics and Metabolism Reports

Auteurs: Mauri, Alessia; Berardo, Clarissa; Biganzoli, Davide; Meta, Andrea; Benedetti, Sara; Rey, Federica; Messa, Letizia; Zuccotti, Gian Vincenzo; Carelli, Stephana; Alberti, Luisella; Cereda, Cristina
Publié dans: Molecular Genetics and Metabolism Reports, 2024, ISSN 2214-4269
Éditeur: Elsevier BV
DOI: 10.1016/J.YMGMR.2024.101074

BMWP: the first Bengali math word problems dataset for operation prediction and solving

Auteurs: Sanchita Mondal; Debnarayan Khatua; Sourav Mandal; Dilip K. Prasad; Arif Ahmed Sekh
Publié dans: Discover Artificial Intelligence, Numéro 5, 2025, ISSN 2731-0809
Éditeur: Springer
DOI: 10.1007/S44163-025-00243-7

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing

Auteurs: Nidia Barco-Armengol, Dèlia Yubero, Clara Xiol, Núria Catasús, Laura Martí-Sánchez, Judith Armstrong, Francesc Palau, Guerau Fernandez
Publié dans: Bioinformatics, Numéro 42, 2026, ISSN 1367-4803
Éditeur: Oxford University Press (OUP)
DOI: 10.1093/BIOINFORMATICS/BTAG104

RetiGene, a comprehensive gene atlas for inherited retinal diseases

Auteurs: Carlo Rivolta, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Mukhtar Ullah, Pilar Barberán-Martínez, Manon Bouckaert, Marta Cortón, Emma Delanote, Lidia Fernández-Caballero, Gema García García, Lara K. Holtes, Marianthi Karali, Irma Lopez, Virginie G. Peter, Nina Schneider, Lieselot Vincke, Carmen Ayuso, Sandro Banfi, Beatrice Bocquet, Frauke Coppieters, Frans P.M. Cremers, Chris F. Inglehearn, Takeshi Iwata, Vasiliki Kalatzis, Robert K. Koenekoop, José M. Millán, Dror Sharon, Carmel Toomes, Mathieu Quinodoz
Publié dans: The American Journal of Human Genetics, Numéro 112, 2026, ISSN 0002-9297
Éditeur: Elsevier BV
DOI: 10.1016/J.AJHG.2025.08.017

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Auteurs: Daniel Brooks; Elizabeth Burke; Sukyeong Lee; Tanya N. Eble; Melanie O’Leary; Ikeoluwa Osei-Owusu; Heidi L. Rehm; Shweta U. Dhar; Lisa Emrick; David Bick; Michelle Nehrebecky; Ellen Macnamara; Dídac Casas-Alba; Judith Armstrong; Carolina Prat; Antonio F. Martínez-Monseny; Francesc Palau; Pengfei Liu; David Adams; Seema Lalani; Jill A. Rosenfeld; Lindsay C. Burrage
Publié dans: Human Genetics, Numéro 143, 2024, ISSN 1432-1203
Éditeur: Springer
DOI: 10.1007/S00439-024-02657-2

Other (2)

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

Auteurs: Belén García-Bohórquez; Purificación Marín-Reina; Elena Aller; Pilar Barberán-Martínez; Miguel Armengot; Roberto Llorens-Salvador; Inmaculada Concepción Almor-Palacios; José M. Millán; Gema García-García
Publié dans: Human Genomics, 2025
DOI: 10.1186/S40246-025-00759-0

Molecular Therapy - Nucleic Acids

Auteurs: García-Bohórquez, B.; Barberán-Martínez, P.; Aller, E.; Jaijo, T.; Mínguez, P.; Rodilla, C.; Fernández-Caballero, L.; Blanco-Kelly, F.; Ayuso, C.; Sanchis-Juan, A.; Broekman, S.; Broekman, S.; de Vrieze, E.; de Vrieze, E.; van WIjk, E.; van WIjk, E.; García-García, G.; Millán, J.M.
Publié dans: Molecular Therapy - Nucleic Acids, 2024, ISSN 2162-2531
Éditeur: Nature Publishing Group
DOI: 10.1016/J.OMTN.2024.102374

Conference proceedings (12)

LinkedDicom: Indexing DICOM Metadata Using Semantic Web Technologies

Auteurs: Johan van Soest, Ananya Choudhury, Alessio Romita, Tim Hendriks, Leonard Wee, Andre Dekker, Varsha Gouthamchand
Publié dans: Studies in Health Technology and Informatics, Opening the Personal Gate between Technology and Health Care, 2026
Éditeur: IOS Press
DOI: 10.3233/SHTI260404

Traceability in Federated Learning in Healthcare

Auteurs: Fu-Sung Kim-Benjamin Tang, Ana Grönke, German Sergei, Mehrshad Jaberansary, Mayra Elwes, Oya Beyan
Publié dans: Studies in Health Technology and Informatics, Opening the Personal Gate between Technology and Health Care, 2026
Éditeur: IOS Press
DOI: 10.3233/SHTI260281

SISO: A Conceptual Model-based Method for Variant Interpretation Systematization

Auteurs: Costa M., Garcia A., Leon A., Pastor O.
Publié dans: CEUR Workshop Proceedings
Éditeur: CEUR WS

BETTER: Better rEal-world healTh-DaTa distributEd analytics Research platform

Auteurs: Ana León, J.F. Reyes Román, Oscar Pastor López
Publié dans: CEUR Workshop Proceedings, Numéro 3987

Leveraging Profiling to Bridge Healthcare Silos for Federated Analyses

Auteurs: Nelly Barret, Anna Bernasconi, Cinzia Cappiello, Giacomo Palu, Pietro Pinoli
Publié dans: Lecture Notes in Business Information Processing, Intelligent Information Systems, 2025
Éditeur: Springer Nature Switzerland
DOI: 10.1007/978-3-031-94590-8_3

Serving Data Right: A Data Steward’s Guide to RDM Tool Evaluation

Auteurs: Hajira Jabeen
Éditeur: Metadata and Semantic Research

Enhancing retinal image clarity: denoising fundus and OCT images using advanced U-Net deep learning

Auteurs: Jitindra Fartiyal, Pedro De Carvalho Sourza, Yasmin Whayeb, Matteo Bregonzio, James S. Wolffsohn, Sergei G. Sokolovski
Publié dans: Dynamics and Fluctuations in Biomedical Photonics XXII, 2025
Éditeur: SPIE
DOI: 10.1117/12.3057145

TEACHING DATA-INTENSIVE DOMAIN SYSTEMS THROUGH THE SILE METHOD AND THE DELFOS TOOL: A STRUCTURED PEDAGOGICAL APPROACH

Auteurs: Ana León, Mireia Costa, José Fabián Reyes, Alberto García, José Ignacio Panach, Oscar Pastor
Publié dans: INTED Proceedings, INTED2026 Proceedings, Numéro 1, 2026
Éditeur: IATED
DOI: 10.21125/INTED.2026.0478

Exploring Federated Learning for Emotion Recognition on Brain-Computer Interfaces

Auteurs: Sofia Mongardi, Pietro Pinoli
Publié dans: Adjunct Proceedings of the 32nd ACM Conference on User Modeling, Adaptation and Personalization, 2025
Éditeur: ACM
DOI: 10.1145/3631700.3665194

Achieving data FAIRification in a distributed analytics research platform for rare diseases

Auteurs: Bernasconi A, Cappiello C, Ceri S, Pinoli P
Publié dans: CEUR Workshop Proceedings
Éditeur: CEUR WS

Implementing a Governance Framework for Federated Learning

Auteurs: Ana Grönke, Mehrshad Jaberansary, Oussama Zoubia, Susanne Vorhagen, Oya Beyan
Publié dans: Studies in Health Technology and Informatics, Opening the Personal Gate between Technology and Health Care, 2026
Éditeur: IOS Press
DOI: 10.3233/SHTI260418

BETTER: Better rEal-world healTh-DaTa distributEd analytics Research platform: Project Progress and Emerging Research Challenges

Auteurs: García, A., Martínez-Minguet, D., León, A. and Pastor, O.
Publié dans: 2026
Éditeur: RCIS 2026 Companion Proceedings