A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance
IC Hageman, IALM van Rooij, I de Blaauw… - Orphanet Journal of …, 2023 - Springer
Patient registries serve to overcome the research limitations inherent in the study of rare
diseases, where patient numbers are typically small. Despite the value of real-world data …
diseases, where patient numbers are typically small. Despite the value of real-world data …
Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles …
R Raycheva, K Kostadinov, E Mitova… - Frontiers in Public …, 2023 - frontiersin.org
Background Given the increased availability of data sources such as hospital information
systems, electronic health records, and health-related registries, a novel approach is …
systems, electronic health records, and health-related registries, a novel approach is …
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European Reference Network registries
Introduction Rare disease patient data are typically sensitive, present in multiple registries
controlled by different custodians, and non-interoperable. Making these data Findable …
controlled by different custodians, and non-interoperable. Making these data Findable …
Building expertise on FAIR through evolving Bring Your Own Data (BYOD) workshops: describing the data, software, and management-focused approaches and their …
ABSTRACT Since 2014,“Bring Your Own Data” workshops (BYODs) have been organised to
inform people about the process and benefits of making resources Findable, Accessible …
inform people about the process and benefits of making resources Findable, Accessible …
[HTML][HTML] De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data
MG Kersloot, A Jacobsen, KHJ Groenen… - Journal of Biomedical …, 2021 - Elsevier
Introduction Existing methods to make data Findable, Accessible, Interoperable, and
Reusable (FAIR) are usually carried out in a post hoc manner: after the research project is …
Reusable (FAIR) are usually carried out in a post hoc manner: after the research project is …
Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic
N Queralt-Rosinach, R Kaliyaperumal… - Journal of biomedical …, 2022 - Springer
Background The COVID-19 pandemic has challenged healthcare systems and research
worldwide. Data is collected all over the world and needs to be integrated and made …
worldwide. Data is collected all over the world and needs to be integrated and made …
Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data
R Kaliyaperumal, MD Wilkinson, PA Moreno… - Journal of biomedical …, 2022 - Springer
Abstract Background The European Platform on Rare Disease Registration (EU RD
Platform) aims to address the fragmentation of European rare disease (RD) patient data …
Platform) aims to address the fragmentation of European rare disease (RD) patient data …
[HTML][HTML] The international society for the study of vascular anomalies (ISSVA) ontology
Abstract The International Society for the Study of Vascular Anomalies (ISSVA) provides a
classification for vascular anomalies that enables specialists to unambiguously classify …
classification for vascular anomalies that enables specialists to unambiguously classify …
[HTML][HTML] Implementing Findable, Accessible, Interoperable, Reusable (FAIR) Principles in Child and Adolescent Mental Health Research: Mixed Methods Approach
R de Groot, F van der Graaff, D van der Doelen… - JMIR Mental …, 2024 - mental.jmir.org
Background The FAIR (Findable, Accessible, Interoperable, Reusable) data principles are a
guideline to improve the reusability of data. However, properly implementing these …
guideline to improve the reusability of data. However, properly implementing these …
A resource for guiding data stewards to make European rare disease patient registries FAIR
P Van Damme, PA Moreno, CH Bernabé… - Data Science …, 2023 - research.rug.nl
Objective: This paper reports on the development of a dynamic data management planning
questionnaire to guide data stewards of the European Reference Network (ERN) rare …
questionnaire to guide data stewards of the European Reference Network (ERN) rare …