President and CEO, Rady Children's Institute for Genomic Medicine
BIOGRAPHY
APR 19, 2022 9:00 AM PDT
Keynote Panel Presentation: Towards Newborn Screening by Whole Genome Sequencing
Presented at:
Genetics Week Virtual Event Series 2022
Speakers
-
Thomas Defay, PhD
Deputy Head, Diagnostics Strategy and Development, Alexion Pharmaceuticals, Inc.BIOGRAPHY
Abstract
Learning Objectives:
1. Discuss the potential for newborn screening by whole genome sequencing.
2. Review the current evidence for the sensitivity and specificity of newborn screening by whole genome sequencing.
3. Explain how the consortium working to deliver newborn screening by whole genome Sequencing is coming together.
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