rare-disease
Audit whether exome data can support an interpretation, before the interpretation.
IDeRare Phenotype Analysis suite : Convert Indonesia SATUSEHAT terminology (SNOMED-CT, LOINC, ICD-10) to Rare Disease Terminology / Ontology (HPO, OMIM) and find the likelihood differential gene and disease explaining patient phenotype
A QC and explainability toolkit for phenotype cohorts: HPO/Phenopacket quality control, annotation-bias checks, outliers, ontology-aware group comparison and robust cohort structure.
