Variants detectable only by whole genome sequencing

deep whole genome sequencing predicts variants detectable only by whole genome sequencing in humans (Detected in 3 of 33 participants (9%)).

HumansLesional focal epilepsy with negative previous deep exome sequencing and array-based genotypingepileptogenic brain lesionn = 33

Deep whole genome sequencing of epileptogenic brain lesions

Epilepsia·8 Oct 2026