arXiv AI

Hyperbolic Graph Representation Learning for Differential Diagnosis on Biomedical Knowledge Graphs

The paper investigates hyperbolic graph representation learning applied to biomedical knowledge graphs for Mendelian-disease differential diagnosis. It shows that hyperbolic embeddings outperform Euclidean baselines on isolated ontology subgraphs while requiring fewer dimensions. In a link-prediction task, hyperbolic models rank candidate diseases for patients, indicating they can leverage hierarchical structure in heterogeneous patient-level graphs.

arXiv AI
Sep 28

HCOE: Hyperbolic Clinical Ontology Embeddings from Biomedical Language Models

The paper introduces Hyperbolic Clinical Ontology Embeddings (HCOE), a method that transforms frozen BioBERT embeddings into a Poincaré ball to capture medical code hierarchies. HCOE employs ontology-guided contrastive learning and coarse‑to‑fine ontology‑path aggregation, leveraging ICD, CCS, and ATC hierarchies. Experiments on MIMIC‑IV demonstrate superior performance in clinical relation prediction, hierarchy transfer, and various predictive tasks such as mortality, readmission, medication recommendation, and rare drug prediction.

By Yixuan Li, Weihao Li, Ziyang Song
arXiv AI
Sep 15

Discovering Hierarchy-Grounded Domains with Adaptive Granularity for Clinical Domain Generalization

The paper introduces UdonCare, a hierarchy‑pruning method that iteratively partitions patients into latent domains using medical ontologies, aiming to improve domain generalization in clinical prediction tasks. It addresses challenges of missing domain labels and lack of clinical insight by discovering hierarchy‑grounded patient domains. Experiments on MIMIC‑III, MIMIC‑IV, and eICU datasets show UdonCare outperforms eight baseline methods across four prediction tasks with significant domain gaps.

By Pengfei Hu, Xiaoxue Han, Fei Wang, Yue Ning
arXiv AI
Aug 10

MolBioKG: Grounding Out-of-Graph Molecules in Biomedical Knowledge Graphs via Multi-Resolution Structural Anchoring

arXiv:2608. 06713v1 Announce Type: new Abstract: Biomedical knowledge graphs (KGs) accelerate drug discovery, but standard pipelines assume query molecules already exist as graph entities, leaving unregistered molecules disconnected.

By Yiming Zhang, Hikaru Shindo, Shuan Chen, Kaushalya Madhawa, Jun Jin Choong, Yuna Oikawa, Takashi Fujiwara, Keisuke Ozawa
arXiv AI
Sep 3

Unifying biomedical knowledge in a modern multimodal graph

OptimusKG is a multimodal biomedical labeled property graph that integrates structured and semi‑structured resources to preserve detailed, type‑specific metadata across molecular, anatomical, clinical, and environmental domains. The graph contains nearly 191,000 nodes, over 21.8 million edges, and more than 67 million property instances derived from 18 ontologies, with a top‑level schema that enforces node and edge constraints while retaining granular provenance. Validation using the PaperQA3 agent found that 70.0% of sampled edges are supported by literature evidence, and the graph offers a standardized resource for machine learning, knowledge‑grounded retrieval, and hypothesis generation in biomedical research.

By Lucas Vittor, Ayush Noori, I\~naki Arango, Joaqu\'in Polonuer, Sam Rodriques, Andrew White, David A. Clifton, Marinka Zitnik
arXiv AI
Jun 16

Hierarchical Modeling of ICD Codes in EHR Foundation Models

arXiv:2606. 15447v1 Announce Type: new Abstract: Electronic health record foundation models typically treat ICD diagnosis codes as flat tokens, overlooking the clinically meaningful hierarchical structure that captures disease families, subcategories, and fine-grained diagnostic detail.

By Megha Thukral, Dong Gyun Kang, Rudra Pratap Singh, Shruthi Kashinath Hiremath, Katrin H\"ansel, Thomas Pl\"otz