Detecting Somatic Mutations in Neurological Disorders With Targeted NGS

2017年2月8日

In this webinar, Dr. Jamuar discusses the optimal technique for the detection of somatic mosaicism. He evaluates the limitations of Sanger sequencing and highlights the advantages of targeted next-generation sequencing (NGS), sharing findings from his paper, Somatic Mutations in Cerebral Cortical Malformations that 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 Presenter: Dr. Saumya Jamuar Consultant, Genetics Service KK Women's and Children's Hospital, Singapore

A global genomics leader, Illumina provides comprehensive next-generation sequencing solutions to the research, clinical, and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science, and beyond. *Data calculations on file. Illumina, Inc., 2015.

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