Better rEal-world healTh-daTa distributEd analytics Research platform

Informazioni relative al progetto

BETTER

ID dell’accordo di sovvenzione: 101136262

DOI

10.3030/101136262

Data della firma CE 10 Novembre 2023

Data di avvio 1 Dicembre 2023

Data di completamento 31 Maggio 2027

Finanziato da

• Health

Costo totale

€ 9 553 530,00

Contributo UE

€ 9 553 530,00

Coordinato da

DATRIX SPA
Italy

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Risultati finali

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.

Pubblicazioni

Peer reviewed articles (13)

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

Autori: Nelly Barret, Anna Bernasconi, Boris Bikbov, Pietro Pinoli
Pubblicato in: BMC Medical Informatics and Decision Making, Numero 25, 2025, ISSN 1472-6947
Editore: 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

Autori: 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
Pubblicato in: JCO Clinical Cancer Informatics, Numero 10, 2026, ISSN 2473-4276
Editore: American Society of Clinical Oncology (ASCO)
DOI: 10.1200/CCI-25-00177

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population

Autori: 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
Pubblicato in: Investigative Ophthalmology & Visual Science, Numero 67, 2026, ISSN 1552-5783
Editore: 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

Autori: Mireia Costa, Alberto García S, Ana León, Oscar Pastor
Pubblicato in: Briefings in Bioinformatics, Numero 26, 2025, ISSN 1467-5463
Editore: Oxford University Press (OUP)
DOI: 10.1093/BIB/BBAF545

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

Autori: Matteo Bregonzio; Anna Bernasconi; Pietro Pinoli
Pubblicato in: Frontiers in Medicine, 2024, ISSN 2296-858X
Editore: 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

Autori: 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
Pubblicato in: Annals of Neurology, Numero 98, 2025, ISSN 0364-5134
Editore: Wiley
DOI: 10.1002/ANA.78005

Nutrients

Autori: 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
Pubblicato in: Nutrients, 2025, ISSN 2072-6643
Editore: 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

Autori: Susanne Neufang, Feifei Li, Atae Akhrif, Oya D. Beyan
Pubblicato in: BMC Medical Informatics and Decision Making, Numero 25, 2025, ISSN 1472-6947
Editore: Springer Science and Business Media LLC
DOI: 10.1186/S12911-025-03126-0

Molecular Genetics and Metabolism Reports

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

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

Autori: Sanchita Mondal; Debnarayan Khatua; Sourav Mandal; Dilip K. Prasad; Arif Ahmed Sekh
Pubblicato in: Discover Artificial Intelligence, Numero 5, 2025, ISSN 2731-0809
Editore: Springer
DOI: 10.1007/S44163-025-00243-7

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing

Autori: Nidia Barco-Armengol, Dèlia Yubero, Clara Xiol, Núria Catasús, Laura Martí-Sánchez, Judith Armstrong, Francesc Palau, Guerau Fernandez
Pubblicato in: Bioinformatics, Numero 42, 2026, ISSN 1367-4803
Editore: Oxford University Press (OUP)
DOI: 10.1093/BIOINFORMATICS/BTAG104

RetiGene, a comprehensive gene atlas for inherited retinal diseases

Autori: 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
Pubblicato in: The American Journal of Human Genetics, Numero 112, 2026, ISSN 0002-9297
Editore: Elsevier BV
DOI: 10.1016/J.AJHG.2025.08.017

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

Autori: 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
Pubblicato in: Human Genetics, Numero 143, 2024, ISSN 1432-1203
Editore: Springer
DOI: 10.1007/S00439-024-02657-2

Other (2)

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

Autori: 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
Pubblicato in: Human Genomics, 2025
DOI: 10.1186/S40246-025-00759-0

Molecular Therapy - Nucleic Acids

Autori: 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.
Pubblicato in: Molecular Therapy - Nucleic Acids, 2024, ISSN 2162-2531
Editore: Nature Publishing Group
DOI: 10.1016/J.OMTN.2024.102374

Conference proceedings (12)

LinkedDicom: Indexing DICOM Metadata Using Semantic Web Technologies

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

Traceability in Federated Learning in Healthcare

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

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

Autori: Costa M., Garcia A., Leon A., Pastor O.
Pubblicato in: CEUR Workshop Proceedings
Editore: CEUR WS

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

Autori: Ana León, J.F. Reyes Román, Oscar Pastor López
Pubblicato in: CEUR Workshop Proceedings, Numero 3987

Leveraging Profiling to Bridge Healthcare Silos for Federated Analyses

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

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

Autori: Hajira Jabeen
Editore: Metadata and Semantic Research

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

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

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

Autori: Ana León, Mireia Costa, José Fabián Reyes, Alberto García, José Ignacio Panach, Oscar Pastor
Pubblicato in: INTED Proceedings, INTED2026 Proceedings, Numero 1, 2026
Editore: IATED
DOI: 10.21125/INTED.2026.0478

Exploring Federated Learning for Emotion Recognition on Brain-Computer Interfaces

Autori: Sofia Mongardi, Pietro Pinoli
Pubblicato in: Adjunct Proceedings of the 32nd ACM Conference on User Modeling, Adaptation and Personalization, 2025
Editore: ACM
DOI: 10.1145/3631700.3665194

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

Autori: Bernasconi A, Cappiello C, Ceri S, Pinoli P
Pubblicato in: CEUR Workshop Proceedings
Editore: CEUR WS

Implementing a Governance Framework for Federated Learning

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

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

Autori: García, A., Martínez-Minguet, D., León, A. and Pastor, O.
Pubblicato in: 2026
Editore: RCIS 2026 Companion Proceedings