Dr. David Goldstein, Director of the Center for Human Genome Variation, discusses how sequencing with the Illumina HiSeq 2500 System is helping advance neuropsychiatry. Topics include progress in large-scale scale studies identifying pathogenic mutations in epilepsy, specifically de novo mutations as a cause of epileptic encephalopathies, how sequencing can aid diagnosis of rare, serious, unresolved genetic conditions, and examples of how genetic diagnosis has influenced clinical management.