Advanced genome sequencing enables genetic diagnosis for complex psychiatric conditions

In a manuscript published today in the American Journal of Psychiatry titled “Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation,” authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a 17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.