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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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The UK is investing £33.6 million into a controversial human SARS-CoV-2 challenge study, according to Reuters.

The Guardian reports that the UK COVID genomics consortium is monitoring mutations that are arising within circulating SARS-CoV-2 strains for any that may affect future vaccines.

Science reports that Max Planck and Nature have struck a deal for affiliated authors to publish papers that are accessible to the public as well as access Nature-branded journals.

In PNAS this week: genomic analysis of ancient animals from Tibet, oncoproteins tied to WEE1 kinase enzyme inhibitor response, and more.

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The COVID-19 pandemic created a paradigm shift in modern healthcare, where regulations, protocols, and mindsets had to be reworked in just a matter of months to keep up with the pace of the virus.