@genebe/epi25

Epi25 epilepsy case/control exome results

Per-variant case/control burden results from the Epi25 Collaborative epilepsy exome study, restricted to the combined "EPI" analysis group (all epilepsy cases vs. controls, as opposed to the DEE/GGE/NAFE clinical subtype breakdowns also published by Epi25).

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.

Only single-nucleotide 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

Epi25 WES Browser, variant_results.vcf.bgz (GRCh38), https://epi25.broadinstitute.org/downloads

Citation

Epi25 Collaborative. Ultra-Rare Genetic Variation in Common Epilepsies: A Case-Control Whole Exome Sequencing Study. American Journal of Human Genetics. 2019;105(2):267-282. doi:10.1016/j.ajhg.2019.06.008.

Website: https://epi25.broadinstitute.org/