Better rEal-world healTh-daTa distributEd analytics Research platform

Información del proyecto

BETTER

Identificador del acuerdo de subvención: 101136262

DOI

10.3030/101136262

Fecha de la firma de la CE 10 Noviembre 2023

Fecha de inicio 1 Diciembre 2023

Fecha de finalización 31 Mayo 2027

Financiado con arreglo a

• Health

Coste total

€ 9 553 530,00

Aportación de la UE

€ 9 553 530,00

Coordinado por

DATRIX SPA
Italy

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Resultado final

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.

Publicaciones

Peer reviewed articles (13)

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

Autores: Nelly Barret, Anna Bernasconi, Boris Bikbov, Pietro Pinoli
Publicado en: BMC Medical Informatics and Decision Making, Edición 25, 2025, ISSN 1472-6947
Editor: 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

Autores: 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
Publicado en: JCO Clinical Cancer Informatics, Edición 10, 2026, ISSN 2473-4276
Editor: American Society of Clinical Oncology (ASCO)
DOI: 10.1200/CCI-25-00177

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population

Autores: 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
Publicado en: Investigative Ophthalmology & Visual Science, Edición 67, 2026, ISSN 1552-5783
Editor: 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

Autores: Mireia Costa, Alberto García S, Ana León, Oscar Pastor
Publicado en: Briefings in Bioinformatics, Edición 26, 2025, ISSN 1467-5463
Editor: Oxford University Press (OUP)
DOI: 10.1093/BIB/BBAF545

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

Autores: Matteo Bregonzio; Anna Bernasconi; Pietro Pinoli
Publicado en: Frontiers in Medicine, 2024, ISSN 2296-858X
Editor: 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

Autores: 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
Publicado en: Annals of Neurology, Edición 98, 2025, ISSN 0364-5134
Editor: Wiley
DOI: 10.1002/ANA.78005

Nutrients

Autores: 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
Publicado en: Nutrients, 2025, ISSN 2072-6643
Editor: 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

Autores: Susanne Neufang, Feifei Li, Atae Akhrif, Oya D. Beyan
Publicado en: BMC Medical Informatics and Decision Making, Edición 25, 2025, ISSN 1472-6947
Editor: Springer Science and Business Media LLC
DOI: 10.1186/S12911-025-03126-0

Molecular Genetics and Metabolism Reports

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

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

Autores: Sanchita Mondal; Debnarayan Khatua; Sourav Mandal; Dilip K. Prasad; Arif Ahmed Sekh
Publicado en: Discover Artificial Intelligence, Edición 5, 2025, ISSN 2731-0809
Editor: Springer
DOI: 10.1007/S44163-025-00243-7

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing

Autores: Nidia Barco-Armengol, Dèlia Yubero, Clara Xiol, Núria Catasús, Laura Martí-Sánchez, Judith Armstrong, Francesc Palau, Guerau Fernandez
Publicado en: Bioinformatics, Edición 42, 2026, ISSN 1367-4803
Editor: Oxford University Press (OUP)
DOI: 10.1093/BIOINFORMATICS/BTAG104

RetiGene, a comprehensive gene atlas for inherited retinal diseases

Autores: 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
Publicado en: The American Journal of Human Genetics, Edición 112, 2026, ISSN 0002-9297
Editor: Elsevier BV
DOI: 10.1016/J.AJHG.2025.08.017

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

Autores: 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
Publicado en: Human Genetics, Edición 143, 2024, ISSN 1432-1203
Editor: Springer
DOI: 10.1007/S00439-024-02657-2

Other (2)

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

Autores: 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
Publicado en: Human Genomics, 2025
DOI: 10.1186/S40246-025-00759-0

Molecular Therapy - Nucleic Acids

Autores: 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.
Publicado en: Molecular Therapy - Nucleic Acids, 2024, ISSN 2162-2531
Editor: Nature Publishing Group
DOI: 10.1016/J.OMTN.2024.102374

Conference proceedings (12)

LinkedDicom: Indexing DICOM Metadata Using Semantic Web Technologies

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

Traceability in Federated Learning in Healthcare

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

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

Autores: Costa M., Garcia A., Leon A., Pastor O.
Publicado en: CEUR Workshop Proceedings
Editor: CEUR WS

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

Autores: Ana León, J.F. Reyes Román, Oscar Pastor López
Publicado en: CEUR Workshop Proceedings, Edición 3987

Leveraging Profiling to Bridge Healthcare Silos for Federated Analyses

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

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

Autores: Hajira Jabeen
Editor: Metadata and Semantic Research

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

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

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

Autores: Ana León, Mireia Costa, José Fabián Reyes, Alberto García, José Ignacio Panach, Oscar Pastor
Publicado en: INTED Proceedings, INTED2026 Proceedings, Edición 1, 2026
Editor: IATED
DOI: 10.21125/INTED.2026.0478

Exploring Federated Learning for Emotion Recognition on Brain-Computer Interfaces

Autores: Sofia Mongardi, Pietro Pinoli
Publicado en: Adjunct Proceedings of the 32nd ACM Conference on User Modeling, Adaptation and Personalization, 2025
Editor: ACM
DOI: 10.1145/3631700.3665194

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

Autores: Bernasconi A, Cappiello C, Ceri S, Pinoli P
Publicado en: CEUR Workshop Proceedings
Editor: CEUR WS

Implementing a Governance Framework for Federated Learning

Autores: Ana Grönke, Mehrshad Jaberansary, Oussama Zoubia, Susanne Vorhagen, Oya Beyan
Publicado en: Studies in Health Technology and Informatics, Opening the Personal Gate between Technology and Health Care, 2026
Editor: IOS Press
DOI: 10.3233/SHTI260418

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

Autores: García, A., Martínez-Minguet, D., León, A. and Pastor, O.
Publicado en: 2026
Editor: RCIS 2026 Companion Proceedings