@genebe/schema

SCHEMA schizophrenia case/control exome results

Per-variant case/control burden results from the Schizophrenia Exome Meta-Analysis (SCHEMA) Consortium, keyed on the "meta" analysis group (the study's only reported group — a cross-cohort meta-analysis, not a per-cohort breakdown).

Alternate allele frequencies af_case and af_ctrl are derived from the reported allele counts and allele numbers (ac_case / an_case and ac_ctrl / an_ctrl); they are null when the corresponding allele number is zero or unknown.

Includes indels as well as SNVs. Only variants on canonical chromosomes are included. Where a small number of variants collide onto the same GRCh38 position, the row with the larger combined case+control allele number is kept.

Source

SCHEMA browser, variant_results.vcf.bgz (GRCh38), https://schema.broadinstitute.org/downloads

Citation

Singh T, Poterba T, Curtis D, et al. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature. 2022;604:509-516. doi:10.1038/s41586-022-04556-w.

Website: https://schema.broadinstitute.org/