AIMC Topic: Rare Diseases
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Low-Shot Deep Learning of Diabetic Retinopathy With Potential Applications to Address Artificial Intelligence Bias in Retinal Diagnostics and Rare Ophthalmic Diseases.
JAMA ophthalmology
Oct 1, 2020
IMPORTANCE: Recent studies have demonstrated the successful application of artificial intelligence (AI) for automated retinal disease diagnostics but have not addressed a fundamental challenge for deep learning systems: the current need for large, cr...
The Path to and Impact of Disease Recognition with AI.
IEEE pulse
Jan 1, 2020
The Process of rare disease identification by clinical geneticists is closely associated with the ability to correlate the phenotype of a patient with the relevant genetic syndromes. In order to perform this correlation, the phenotype has to be descr...
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic acids research
Jan 8, 2019
The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detaile...
[From symptom to syndrome using modern software support].
Der Internist
Aug 1, 2018
Diagnosing rare diseases can be challenging for clinicians. This article gives an overview on novel approaches, which enable automated phenotype-driven analyses of differential diagnoses for rare diseases as well as genomic variation data of affected...
An Ontology-Based Approach to Estimate the Frequency of Rare Diseases in Narrative-Text Radiology Reports.
Studies in health technology and informatics
Jan 1, 2017
This study sought to use ontology-based knowledge to identify patients with rare diseases and to estimate the frequency of those diseases in a large database of radiology reports. Natural language processing methods were applied to 12,377,743 narrari...
Antiphospholipid Syndrome with Antiβ2glicoprotein-1 Antibodies as the Cause of Recurrent Tibial Vein Thrombosis in SAPHO syndrome.
Acta dermatovenerologica Croatica : ADC
Dec 1, 2016
The antiphospholipid antibody syndrome is defined by the presence of antiphospholipid antibodies in patients with recurrent venous or arterial thromboembolism (1). SAPHO syndrome is a rare disease, characterized by specific clinical manifestations of...
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