Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Clinical coding is the task of transforming medical information in a patient's health records
into structured codes so that they can be used for statistical analysis. This is a cognitive and …

Develo** personalized diagnostic strategies and targeted treatments requires a deep
understanding of disease biology and the ability to dissect the relationship between …

Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults
with rare genetic diseases shortens their" diagnostic odyssey," improves disease …

Patient registries serve to overcome the research limitations inherent in the study of rare
diseases, where patient numbers are typically small. Despite the value of real-world data …

Integrating deep learning techniques, particularly language models (LMs), with knowledge
representation techniques like ontologies has raised widespread attention, urging the need …

Although research on rare autoimmune and autoinflammatory diseases has enabled
definition of nonredundant regulators of homeostasis in human immunity, because of the …

Background: The recent advances in machine translation (MT) offer an appealing and low-
cost solution to overcome language barriers in multiple contexts (eg, travelling, cultural …

Ontology Matching (OM) plays an important role in many domains such as bioinformatics
and the Semantic Web, and its research is becoming increasingly popular, especially with …