IBNSINA-QI: Integrating Biomedical Networks and Semantic Information for Neural network Analysis of Quantitative Information

Overview

Neuro-symbolic methods integrating biomedical networks and ontologies for quantitative analysis of disease phenotypes and variants.

Period: 2021–2023

Funding

  • KAUST Competitive Research Grant — Grant ID: URF/1/4355-01-01 (PI) — USD 239,999

Team

  • Robert Hoehndorf — PI (KAUST (Professor of Computer Science))
  • Paul N Schofield — CoI (University of Cambridge)
  • Georgios V Gkoutos — CoI (University of Birmingham)
  • Sarah Alghamdi — PhD (alumnus)
  • Azza Althagafi — PhD (alumnus)
  • Sumyyah Toonsi — PhD (alumnus)
  • Fernando Zhapa-Camacho — PhD (alumnus), MSc (alumnus) (KAUST)
  • Xi Peng — MSc (alumnus)
  • Zhenwei Tang — MSc (alumnus)

Software

Publications acknowledging this project (18)

  • (2025) Lattice-based $\mathcalALC$ ontology embeddings with saturation
  • (2024) Predicting protein functions using positive-unlabeled ranking with ontology-based priors Supplementary Material
  • (2024) Neuro-symbolic AI in Life Sciences
  • (2023) DeepGOMeta: Functional Insights into Microbial Communities with Deep Learning-Based Protein Function Prediction
  • (2022) Exploring the Use of Ontology Components for Distantly-Supervised Disease and Phenotype Named Entity Recognition
  • (2022) mOWL: revision document
  • (2021) How much do model organism phenotypes contribute to the computational identification of human disease genes?
  • (2020) DeepGOWeb: Fast and accurate protein function prediction on the (Semantic) Web
  • (2015) The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients
  • (2015) The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients
  • (2012) Exploring the Use of Ontology Components for Distantly-Supervised Disease and Phenotype Named Entity Recognition
  • (2012) Improving the classification of cardinality phenotypes using collections
  • (2012) Linking common human diseases to their phenotypes; development of a resource for human phenomics
  • (2012) Komenti: A Semantic Text-mining Framework
  • (2012) STARVar: Symptom-based Tool for Automatic Ranking of Variants using evidence from literature and genomes
  • … and 3 more.

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