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Rare Disease Registries Classification and Characterization: A Data Mining Approach

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1007/978-90-481-9485-8_6openalex-snapshot

Patient Registries: Utility, Validity and Inference

inferredcites →https://doi.org/10.1007/s11606-014-2894-xopenalex-snapshot

The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes Research

inferredcites →https://doi.org/10.1007/s11606-014-2908-8openalex-snapshot

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

inferredcites →https://doi.org/10.1016/j.cct.2010.06.007openalex-snapshot

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

inferredcites →https://doi.org/10.1023/a:1010933404324openalex-snapshot

Random Forests

inferredcites →https://doi.org/10.1037/a0016973openalex-snapshot

An introduction to recursive partitioning: Rationale, application, and characteristics of classification and regression trees, bagging, and random forests.

inferredcites →https://doi.org/10.1093/biostatistics/kxj011openalex-snapshot

Survival ensembles

inferredcites →https://doi.org/10.1159/000355934openalex-snapshot

The Current Situation and Needs of Rare Disease Registries in Europe

inferredcites →https://doi.org/10.1186/1471-2105-8-25openalex-snapshot

Bias in random forest variable importance measures: Illustrations, sources and a solution

inferredcites →https://doi.org/10.1186/1471-2105-9-307openalex-snapshot

Conditional variable importance for random forests

inferredcites →https://doi.org/10.1186/1750-1172-7-s2-a22openalex-snapshot

EPIRARE survey on activities and needs of rare disease registries in the European Union

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.3546969openalex-extracted

Rare Disease Detection and Physician Targeting: A Factor Graph Machine Learning Approach

inferred← citeshttps://doi.org/10.1007/978-3-030-81982-8_10openalex-snapshot

A Software Architecture for Developing Disease Registries

inferred← citeshttps://doi.org/10.1007/978-3-319-67144-4_8openalex-snapshot

Data Quality in Rare Diseases Registries

inferred← citeshttps://doi.org/10.1007/978-981-16-1554-2_5openalex-snapshot

Rare Disease Registries: A Case Study of the Haemophilia Registry in India

inferred← citeshttps://doi.org/10.1007/s11129-025-09302-wopenalex-snapshot

Predicting rare events in markets with relational data

inferred← citeshttps://doi.org/10.1038/s41575-023-00838-4openalex-snapshot

Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards

inferred← citeshttps://doi.org/10.1080/21678707.2016.1188002openalex-snapshot

Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide

inferred← citeshttps://doi.org/10.1080/21678707.2017.1259065openalex-snapshot

Epidemiological research, scientific research, and applied research on rare diseases in China: current challenges and prospects for the future

inferred← citeshttps://doi.org/10.1159/000444476openalex-snapshot

The Quality of Rare Disease Registries: Evaluation and Characterization

inferred← citeshttps://doi.org/10.1186/s13023-016-0528-6openalex-snapshot

The RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases

inferred← citeshttps://doi.org/10.1186/s13023-018-0836-0openalex-snapshot

Rare disease registries: potential applications towards impact on development of new drug treatments

inferred← citeshttps://doi.org/10.1186/s13023-019-1088-3openalex-snapshot

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

inferred← citeshttps://doi.org/10.1186/s13023-021-01733-4openalex-snapshot

Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)

inferred← citeshttps://doi.org/10.1186/s13023-022-02189-wopenalex-snapshot

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

inferred← citeshttps://doi.org/10.1186/s13023-023-02719-0openalex-snapshot

A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance

inferred← citeshttps://doi.org/10.1186/s13023-024-03193-yopenalex-snapshot

Scoping review of the recommendations and guidance for improving the quality of rare disease registries

inferred← citeshttps://doi.org/10.21203/rs.3.rs-8204628/v1openalex-snapshot

Minimum genomic data sets for rare diseases: A systematic review

inferred← citeshttps://doi.org/10.25162/9783515129770openalex-snapshot

Künstliche Intelligenz und Gesundheit. Ethische, philosophische und sozialwissenschaftliche Explorationen

inferred← citeshttps://doi.org/10.3389/fpubh.2019.00236openalex-snapshot

Communication Needs for Individuals With Rare Diseases Within and Around the Healthcare System of Northern Ireland

inferred← citeshttps://doi.org/10.3389/fpubh.2023.1214766openalex-snapshot

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review

inferred← citeshttps://doi.org/10.3390/genes10120978openalex-snapshot

Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

inferred← citeshttps://doi.org/10.3390/ijerph15081644openalex-snapshot

Recommendations for Improving the Quality of Rare Disease Registries

inferred← citeshttps://doi.org/10.3390/jcm13123520openalex-snapshot

Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry

inferred← citeshttps://doi.org/10.4018/978-1-4666-9978-6.ch059openalex-snapshot

Rare Diseases Internet Information Retrieval and Knowledge Discovery

inferred← citeshttps://doi.org/10.6084/m9.figshare.14053053openalex-snapshot

Additional file 1 of Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)

inferred← citeshttps://doi.org/10.6084/m9.figshare.26716666openalex-snapshot

Additional file 1 of Scoping review of the recommendations and guidance for improving the quality of rare disease registries

inferred← citeshttps://doi.org/10.6084/m9.figshare.26716669openalex-snapshot

Additional file 2 of Scoping review of the recommendations and guidance for improving the quality of rare disease registries

inferred← citeshttps://doi.org/10.6084/m9.figshare.26716672openalex-snapshot

Additional file 3 of Scoping review of the recommendations and guidance for improving the quality of rare disease registries

inferred← citeshttps://doi.org/10.6084/m9.figshare.26716675openalex-snapshot

Additional file 4 of Scoping review of the recommendations and guidance for improving the quality of rare disease registries

inferred← citeshttps://doi.org/10.70675/d9f86e31zcd93z45cbz88c8z04eab33c2ab0openalex-snapshot

Statistiques et modèles de survie pour améliorer la connaissance d’une maladie rare, la dystrophie myotonique

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