Detecting somatic mutations in neurological disorders with targeted NGS

Detecting somatic mutations in neurological disorders with targeted NGS

Dr. Saumya Jamuar, Consultant, Genetics Service, KK Women's and Children's Hospital, Singapore
Topic: Cancer Genomics : Human Genetics & Genetic Disease : Sequencing

Join Dr. Jamuar as he discusses the optimal technique for the detection of somatic mosaicism. He’ll evaluate the limitations of Sanger sequencing and highlight the advantages of targeted next-generation sequencing (NGS), sharing findings from his paper, Somatic Mutations in Cerebral Cortical Malformations, which was published in the New England Journal of Medicine.

Webinar at a glance:

  • Learn about somatic mutations and threshold of detection. 
  • Understand the prevalence of somatic mutations in neurodevelopmental disease.
  • Evaluate an optimal technique for somatic mosaicism detection
    • Limitations of Sanger sequencing
    • Advantages of targeted NGS 


High-volume sequence analysis with BaseSpace Sequence Hub and Edico Genome DRAGEN apps
Casey Geaney, Senior Product Manager and Ilya Chorny, Associate Director, Product Marketing, Illumina, Rami Mehio, VP of Engineering and Shyamal Mehtalia, Director of Operations, Edico Genome
Topic: Human Genetics & Genetic Disease