Improvement of genetic variant prioritization technology

Mon, May 18 2026

Applied Ontology Neuro-Symbolic AI Rare disease

Overview

Engineering improvements to the semantic variant-prioritization pipeline (PhenomeNet, DeepPVP).

Period: 2018–2019

Funding

KAUST Center Partnership Fund — Grant ID: FCS/1/3657-01-01 (PI) — USD 9,500

Team

Robert Hoehndorf — PI (KAUST (Professor of Computer Science))
Paul N Schofield — CoI (University of Cambridge)
Georgios V Gkoutos — CoI (University of Birmingham)
Vladimir Bajic — CoI (Former KAUST CBRC director (retired))

Publications acknowledging this project (4)

(2020) Semantic similarity and machine learning with biomedical ontologies
(2019) Formal axioms in biomedical ontologies improve analysis and interpretation of associated data
(2018) Formal axioms in biomedical ontologies improve analysis and interpretation of associated data
(2016) Self-normalizing learning on biomedical ontologies

Topics: Applied Ontology, Neuro-symbolic AI, Rare disease