Journal of the American Medical Informatics Association : JAMIA
Jan 18, 2023
OBJECTIVE: For the UK Biobank, standardized phenotype codes are associated with patients who have been hospitalized but are missing for many patients who have been treated exclusively in an outpatient setting. We describe a method for phenotype recog...
Rare diseases represent a highly heterogeneous group of disorders with high phenotypic and genotypic diversity within individual conditions. Due to the small numbers of people affected, there are unique challenges in understanding rare diseases and d...
Studies in health technology and informatics
Jun 29, 2022
Automated coding of diseases can support hospitals in the billing of inpatient cases with the health insurance funds. This paper describes the implementation and evaluation of classification methods for two selected Rare Diseases. Different classifie...
Studies in health technology and informatics
May 25, 2022
The wide adoption of Electronic Health Records (EHR) in hospitals provides unique opportunities for high throughput phenotyping of patients. The phenotype extraction from narrative reports can be performed by using either dictionary-based or data-dri...
Almost 1 in 10 individuals can suffer from one of many rare diseases (RDs). The average time to diagnosis for an RD patient is as high as 7 years. Artificial intelligence (AI)-based positron emission tomography (PET), if implemented appropriately, ha...
Alkaptonuria (AKU, OMIM: 203500) is an autosomal recessive disorder caused by mutations in the Homogentisate 1,2-dioxygenase (HGD) gene. A lack of standardized data, information and methodologies to assess disease severity and progression represents ...
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 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...
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...
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...
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