Marwa Abdelhakim

This study identifies miRNA-regulated networks in human heatstroke that link stress-survival signalling to impaired protein quality control and metabolic flexibility.

PAVS is a database of phenotype-associated variants from Saudi Arabian rare disease patients, enabling gene prioritization through phenotype-based similarity search.

This study uses whole-genome sequencing to analyze S. aureus isolates from Saudi Arabia, revealing higher genetic diversity and antimicrobial resistance in pilgrimage cities compared to non-pilgrimage cities.

The paper constructs a pangenome graph reference for Japanese and Saudi Arabian populations, showing improved variant detection compared to linear references and comparable performance to existing pangenome graphs.

The paper evaluates variant prioritization methods for rare disease diagnosis using data from the Rare Genomes Project, finding that top models identify causal variants in most solved families and uncover potential candidates in unsolved ones.

The paper presents a fully annotated reference genome from a Saudi individual using de novo assembly and AI-based annotation, making all data publicly available.

DDIEM compiles therapeutic strategies for 299 inborn errors of metabolism, classifying treatments by mechanism of action using a new ontology.

PathoPhenoDB links human pathogens to disease phenotypes to support infectious disease research by integrating pathogen-disease associations and drug resistance information.