Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248
schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in
10 genes as conferring substantial risk for schizophrenia (odds ratios of 3–50, P< 2.14× 10−
6) and 32 genes at a false discovery rate of< 5%. These genes have the greatest expression
in central nervous system neurons and have diverse molecular functions that include the …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248
schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in
10 genes as conferring substantial risk for schizophrenia (odds ratios of 3-50, P< 2.14× 10-
6) and 32 genes at a false discovery rate of< 5%. These genes have the greatest expression
in central nervous system neurons and have diverse molecular functions that include the …