Suhana Shiyas

This study uses long-read whole genome sequencing and pangenomes to identify novel variants and pathogenic findings in neurodevelopmental disorder cases from underrepresented populations.

The paper identifies two pathogenic variants in a consanguineous family, one causing hearing loss and the other neurodevelopmental disorder, through genomic and transcriptomic analysis.

The paper evaluates the Horizon model, a CNV classification tool aligned with ACMG guidelines, showing high accuracy in pathogenicity prediction across multiple datasets.

The paper presents the first Arab Pangenome Reference using long-read and Hi-C data, revealing novel sequences and variants specific to Arab populations.

PanScan is a tool for tertiary analysis of human pangenome graphs, enabling detection of duplicated genes, novel variants, and complex genomic regions.