Arsalan Hassan

Ultra-rare damaging coding variants in 87,959 schizophrenia cases and 150,587 controls implicate 40 genes (16 exome-wide, 24 at 5% FDR), half overlapping autism, developmental delay or bipolar genes.

This study evaluates imputation performance of reference panels in a Pakistani population, finding that ex1KG outperforms TOPMed despite its smaller size.

The paper investigates the conservation of rare schizophrenia risk variants across diverse populations and finds consistent burden in constrained genes.