Simulating the Rare Disease Diagnostic Journey
Author:
Affiliation:
1. Swansea University, United Kingdom
Funder
Engineering and Physical Sciences Research Council
Publisher
ACM
Link
https://dl.acm.org/doi/pdf/10.1145/3596454.3597188
Reference12 articles.
1. Prion disease diagnosis using subject-specific imaging biomarkers within a multi-kernel Gaussian process
2. MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants
3. Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria
4. François Faurisson . 2004 . Survey of the delay in diagnosis for 8 rare diseases in Europe: EurordisCare2 . European Organisation for Rare Diseases. Retrieved January 19, 2023 from https://www.eurordis.org/wp-content/uploads/2009/12/EURORDISCARE_FULLBOOKr.pdf François Faurisson. 2004. Survey of the delay in diagnosis for 8 rare diseases in Europe: EurordisCare2. European Organisation for Rare Diseases. Retrieved January 19, 2023 from https://www.eurordis.org/wp-content/uploads/2009/12/EURORDISCARE_FULLBOOKr.pdf
5. PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases
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