A public Saudi pangenome as reference for genomics in the Middle East
Builds an open Saudi pangenome reference to support genomics applications in the Middle East, including rare-disease variant interpretation.
Overview
Builds an open Saudi pangenome reference to support genomics applications in the Middle East, including rare-disease variant interpretation.
Funding
- Funder: KAUST Smart Health Initiative
- Grant ID:
REI/1/5659-01-01 - Role: PI
- Period: 2024–2026
Team
- Robert Hoehndorf — PI (KAUST (Professor of Computer Science))
- Malak Althagafi — CoI (Emory University)
Recent publications acknowledging this grant
- (2024) Predicting protein functions using positive-unlabeled ranking with ontology-based priors Supplementary Material
- (2022) Large-Scale Knowledge Integration for Enhanced Molecular Property Prediction
- (2022) Context-based protein function prediction in bacterial genomes
- (2022) Causal Knowledge Graphs: Leveraging Background Knowledge for Causal Inference at Scale
- (2020) PAVS: A database of phenotype-associated variants in Saudi Arabia
- (2018) Ontology Embedding: A Survey of Methods, Applications and Resources
Tags: machine learning, rare disease, pangenome, variant prioritization, Saudi-specific