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November 18, 2020
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Rapid WGS: How Rady Children’s Institute Is Increasing Diagnostic Yield and Improving Outcomes


President and CEO, Rady Children's Institute for Genomic Medicine

Associate Lab Director

Co-founder and Chief Science Officer,

Rapid whole-genome sequencing (rWGS) is an emerging method that can provide molecular diagnosis in time to alter acute medical or surgical management and improve outcomes in acutely ill children. The clinical utility of rWGS depends on the ability to rapidly analyze and interpret large amounts of sequencing data. Diagnostic yield and accuracy are of the utmost importance. Validation, and implementation of automated data analysis platforms, including automated literature curation search engines, is needed to increase diagnostic yield while reducing turnaround time. Reliance on expert resources must decrease to drive down operational costs and make this testing more cost-effective.

In this webinar, Dr. Stephen Kingsmore, President and CEO of Rady Children's Institute for Genomic Medicine, will give an executive overview of the two-time world-record-setting Rady rWGS method, followed by a deeper examination of the institute’s analysis and interpretation pipeline by Dr. Katarzyna (Kasia) Ellsworth. The presentation will include a demonstration of the Rady literature curation process that is powered by the Mastermind Genomic Search Engine.

You Will Learn:

  • Why rWGS is essential for undiagnosed infants in an intensive care setting
  • How Rady Children’s Institute for Genomic Medicine uses best-of-breed technology to perform rWGS and deliver precision medicine genomic results in a matter of days
  • How rWGS has been effective in real-world examples
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