IMPORTANCE: The Undiagnosed Diseases Network (UDN) is a national network that evaluates individual patients whose signs and symptoms have been refractory to diagnosis. Providing reliable estimates of admission outcomes may assist clinical evaluators ...
Medical & biological engineering & computing
Jan 25, 2021
Deep learning (DL) has been successfully applied to the diagnosis of ophthalmic diseases. However, rare diseases are commonly neglected due to insufficient data. Here, we demonstrate that few-shot learning (FSL) using a generative adversarial network...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Jan 25, 2021
The mortality prediction of diverse rare diseases using electronic health record (EHR) data is a crucial task for intelligent healthcare. However, data insufficiency and the clinical diversity of rare diseases make it hard for deep learning models to...
BACKGROUND: The Genetic and Rare Diseases (GARD) Information Center was established by the National Institutes of Health (NIH) to provide freely accessible consumer health information on over 6500 genetic and rare diseases. As the cumulative scientif...
Journal of inherited metabolic disease
Sep 8, 2020
The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Cons...
International journal of environmental research and public health
Aug 19, 2020
This research provides a biomedical ontology to adequately represent the information necessary to manage a person with a disease in the context of a specific patient. A bottom-up approach was used to build the ontology, best ontology practices descri...
BACKGROUND: Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that investigate, from a general per...
Background Although artificial intelligence (AI) shows promise across many aspects of radiology, the use of AI to create differential diagnoses for rare and common diseases at brain MRI has not been demonstrated. Purpose To evaluate an AI system for ...
International journal of molecular sciences
Mar 27, 2020
Flow cytometry nowadays is among the main working instruments in modern biology paving the way for clinics to provide early, quick, and reliable diagnostics of many blood-related diseases. The major problem for clinical applications is the detection ...
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