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Podcast: How Whole-Genome Sequencing is Bringing New Treatment Options to Life

Psomagen Blog

Podcast: How Whole-Genome Sequencing is Bringing New Treatment Options to Life


Join us as we talk with experts in rare disease research, clinical practice, and WGS technology about how it is bringing disease diagnostics and treatment to life:

  • David Dimmock
    Senior Medical Director at Rady Children’s Institute of Genomic Medicine
  • Alan Beggs
    Director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital
    Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School
  • Christine Stanley
    Chief Director of Clinical Genomics at Variantyx
  • Take Ogawa
    Chief Commercial Officer at Psomagen


This content was produced in association with Biotechniques, Variantyx, Rady Children’s Institute of Genomic Medicine, and Harvard Medical School.



  • Introduction: 00:00-02:30
  • Defining the diagnostic odyssey: 02:30-06:20
  • Rare disease discovery: 06:20-09:20
  • Techniques involved in rare disease discovery: 09:20-12:05
  • Whole-genome sequencing updates impacting clinical diagnosis: 12:05-18:30
  • Currently required improvements in techniques for rare disease research and management: 18:30-24:10
  • Explaining long-read and short-read sequencing: 24:10-26:00
  • Developing therapeutics for rare diseases: 26:00-30:00
  • Whole-genome sequencing in animal model validation: 30:00-31:20
  • Improving access to whole-genome sequencing available to researchers and clinicians: 31:20-33:40
  • How whole-genome sequencing is improving the management and outcomes for rare diseases: 33:40-38:27

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