As biotechnology and computer science continue to advance, there's a growing amount of biomedical data worldwide. However, standardizing and consolidating these data remains challenging, making analysis and comprehension more difficult. To enhance re...
The amount of biomedical data is growing, and managing it is increasingly challenging. While Findable, Accessible, Interoperable and Reusable (FAIR) data principles provide guidance, their adoption has proven difficult, especially in larger enterpris...
Analytical and bioanalytical chemistry
Feb 8, 2025
While GlyTouCan provides stable identifiers for referencing glycan structures, they are not organized semantically. GNOme, a glycan naming and subsumption ontology and a member of the OBOFoundry, organizes GlyTouCan accessions for automated reasoning...
Although rare diseases (RDs) affect over 260 million individuals worldwide, low data quality and scarcity challenge effective care and research. This work aims to harmonise the Common Data Set by European Rare Disease Registry Infrastructure, Health ...
BACKGROUND: Over the last 10-15 years, US health care and the practice of medicine itself have been transformed by a proliferation of digital medicine and digital therapeutic products (collectively, digital health tools [DHTs]). While a number of DHT...
Computer methods and programs in biomedicine
Jan 3, 2025
BACKGROUND AND OBJECTIVE: Despite significant investments in the normalization and the standardization of Electronic Health Records (EHRs), free text is still the rule rather than the exception in clinical notes. The use of free text has implications...
Rare diseases affect 1-in-10 people in the United States and despite increased genetic testing, up to half never receive a diagnosis. Even when using advanced genome sequencing platforms to discover variants, if there is no connection between the var...
"Exercise is medicine" emphasizes personalized prescriptions for better efficacy. Current guidelines need more support for personalized prescriptions, posing scientific challenges. Facing those challenges, we gathered data from established guidelines...
BACKGROUND: Rare diseases affect millions worldwide but sometimes face limited research focus individually due to low prevalence. Many rare diseases do not have specific International Classification of Diseases, Ninth Edition (ICD-9) and Tenth Editio...
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