Robert Ye

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.

The paper presents a large reference panel of 515,579 genomes to improve rare-variant imputation across underrepresented populations, enhancing accuracy for variants with frequencies as low as 0.002%.

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

This paper introduces GISMO and GISMO-mis metrics to quantify gene loss and missense variation across mammals, identifying essential genes and improving gene-disease associations.

The paper quantifies regional missense mutational intolerance using 730,947 exomes to identify constrained gene regions and improve variant interpretation.