Collaborator: Kaiser Permanente

• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

• Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

• Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

• Concurrent DNA and RNA genetic testing identifies more patients with Lynch Syndrome than DNA testing alone

  * Concurrent RNA and DNA genetic testing increases the clinical impact of Lynch syndrome testing. * In this pilot study, RNA sequencing contributed to a 14% relative increase in diagnostic yield for Lynch syndrome overall; this increase was even higher among families with 3 or more individuals with Lynch spectrum cancers. * RNA sequencing also…

  April 2, 2026