Malak Abedalthagafi

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

This study assesses metadata completeness in public omics studies, finding that most important phenotypes are often omitted, with only 11.5% of studies fully sharing all phenotypes.

The paper investigates the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 and finds no significant association.

The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.