Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue.

Optical genome mapping uncovers somatic structural variants in epilepsy brain tissue, revealing clinically relevant deletions in 20% of cases.

• Why it matters: Detecting somatic structural variants is crucial for understanding epilepsy genetics, but current methods often miss these variants, limiting diagnostic accuracy and treatment options.
• What they did: Researchers optimized a protocol for optical genome mapping on brain tissue, achieving high coverage and applying it to four epilepsy patients to identify structural variants beyond short-read sequencing.
• The result: The approach identified large, complex variants, including a somatic 13.2kb deletion in DEPDC5 at 20% VAF, demonstrating OGM’s potential to enhance diagnosis and understanding of neurological disorders.