Screening 100,000 newborns using whole genome sequencing: The Genomics...
Description
In this on-demand recording from ACMG 2024, hear from Dr. David Bick, Principal Clinician of the Newborn Genomes Program at Genomics England, as he discusses the first-of-its-kind initiative aiming to sequence the genomes of 100,000 newborns in England to screen for over 200 selected conditions.
In his talk, you will learn about:
The development and deployment of The Generation Study
How Genomics England selected the genes and conditions to include in the point-of-care test
How QIAGEN provided expert-curated content for 69,844 pathogenic or likely pathogenic variants across all 209 conditions
The variant prioritization strategy used by Genomics England to enable efficient and actionable reporting
The anticipated research outcomes and future plans
Learn more about how QIAGEN is supporting The Generation Study here.
United States
