Dia Advani

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 identifies tissue- and isoform-level genetic regulation differences between epilepsy and SUDEP, revealing distinct cardiac and neuronal gene expression patterns.

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