Maahil Arshad

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 generates a high-resolution proteogenomic atlas of human neuronal development using long-read RNA sequencing and proteomics, revealing novel isoforms and their role in neurodevelopmental risk mechanisms.

The paper evaluates codon usage bias in humans, showing its association with biological processes, protein structure, and tRNA abundance, while disentangling mutational pressure from translational selection.