BACKGROUND
- Whole Genome Sequencing (WGS) is a comprehensive test that investigates the genome to identify pathogenic variants.
- WGS enables the simultaneous detection of multiple variant types.
- Previous studies have shown that 2-7% of individuals undergoing WHS receive a dual molecular diagnosis.
- The clinical and genetic landscape of specific indications associated with dual diagnoses remains underexplored.
- This study examined WGS results from patients with dual diagnoses and epilepsy.
