Subgrouping Rare Disease Patients Leveraging the Human Phenotype Ontology Embeddings.
Feichen ShenAndrew WenHongfang LiuPublished in: CBMS (2020)
Keyphrases
- clinically relevant
- early diagnosis
- multiple sclerosis
- diagnostic tool
- knowledge base
- cardiovascular disease
- medical doctors
- emergency department
- clinical studies
- domain knowledge
- patient groups
- single nucleotide polymorphisms
- human subjects
- dimensionality reduction
- disease diagnosis
- genotype phenotype
- amyotrophic lateral sclerosis
- disease progression
- clinical data
- semantic annotation
- domain ontology
- domain specific
- knowledge representation
- clinical trials
- patient data
- semantic web
- liver disease
- medical practitioners
- high dimensional