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September 01, 2020
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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 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.

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Sponsored by
Fabric Genomics

The growth of next-generation sequencing (NGS) testing presents both opportunities and challenges for clinical, informatics, and laboratory teams.