On-demand | Application of Whole-Exome Sequencing in Neurodevelopmental Disorders Research
This webinar will address the utility of exome sequencing for neurodevelopmental disorders research and will provide details of a comparison study of two exome probe kits in this field of study.
The genetic etiologies of many neurodevelopmental disorders, including epilepsy and intellectual disability, have been mapped out, and custom panels are available to help in their identification. Existing panels, while sufficient in detecting all variant classes, can be challenging for streamlining the lab workflow and for keeping up with frequent content updates.
In this webinar, Dr. Gaëtan Lesca of Lyon University Hospital (FRA) will share the results of a comparison of Roche’s SeqCap EZ MedExome Probes with the company’s new KAPA HyperExome Probes in a range of patients with neurodevelopmental disorders.
Attendees of this webinar will:
- Gain a better understanding of the genetic etiologies of neurodevelopmental disorders
- Appreciate the limitations of current tools to evaluate neurodevelopmental disorders
- Understand the differences between the performance of the KAPA HyperExome Probes and Roche’s previous whole-exome sequencing solution.
For research use only. Not for use in diagnostic purposes.
KAPA, HYPEREXOME, and SEQCAP are trademarks of Roche. All other product names and trademarks are the property of their respective owner.
Date: Tuesday, September 1st, 2020
Time: 11:00 AM Eastern Daylight Time
Duration: 1 hour
More about the speaker
Dr. Gaëtan Lesca is a medical geneticist specializing in neurodevelopmental disorders with both national and international recognition in the field of Mendelian inherited epilepsies. Dr. Lesca has contributed to the identification of the role of several genes in human epilepsies (GRIN2A, CUX2, GUF1, RORB, ATP1A2, GAD1) and currently leads the unit of molecular genetics of neurodevelopmental disorders in the Genetic Laboratory of the Lyon University Hospital. Dr. Lesca is involved in the French reference network for rare epilepsies (Le centre de référence des épilepsies rares, or CRéER) and the European reference Network for Rare Epilepies (ERN-EPICARE). Dr. Lesca is also member of the team “energy metabolism and neuronal development” (head Julien Courchet) in the Neuromyogene Institute (Lyon). The research field aims at understanding the signaling pathways involved in some disorders caused by germline mutations in some genes (CUX2, SON, CHD2, PACS1).