Anne Stevenson

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 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 study examines genetic structure in African populations using ethnolinguistic data, finding that language classifications better capture genetic variation than geography alone.

This study shows low-coverage sequencing is more accurate and cost-effective than GWAS arrays for detecting genetic variation in diverse African populations.