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cs.DB2024
Implications of mappings between ICD clinical diagnosis codes and Human Phenotype Ontology terms
Amelia LM Tan, Rafael S Gonçalves, William Yuan +4
Objective: Integrating EHR data with other resources is essential in rare disease research due to low disease prevalence. Such integration is dependent on the alignment of ontologi…
cs.DB2024
The text2term tool to map free-text descriptions of biomedical terms to ontologies
Rafael S. Gonçalves, Jason Payne, Amelia Tan +3
There is an ongoing need for scalable tools to aid researchers in both retrospective and prospective standardization of discrete entity types -- such as disease names, cell types o…