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Clustering rare diseases within an ontology-enriched knowledge graph.

Jaleal S SanjakJessica BinderArjun Singh YadawQian ZhuEwy A Mathé
Published in: Journal of the American Medical Informatics Association : JAMIA (2023)
We lay out a method for clustering rare diseases using graph node embeddings. We develop an easy-to-maintain pipeline that can be updated when new data on rare diseases emerges. The embeddings themselves can be paired with other representation learning methods for other data types, such as drugs, to address other predictive modeling problems.
Keyphrases
  • electronic health record
  • single cell
  • mental health
  • rna seq
  • lymph node
  • neural network
  • data analysis
  • deep learning