Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen

• Main Authors: David J. McBride (Author), Claire Fielding (Author), Taksina Newington (Author), Alexandra Vatsiou (Author), Harry Fischl (Author), Maya Bajracharya (Author), Vicki S. Thomson (Author), Louise J. Fraser (Author), Pauline A. Fujita (Author), Jennifer Becq (Author), Zoya Kingsbury (Author), Mark T. Ross (Author), Stuart J. Moat (Author), Sian Morgan (Author)
• Format: Book
• Published: MDPI AG, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world. Sub-punches of varying sizes (1.5-6 mm) can be taken from DBS specimens to use as inputs for a range of biochemical assays. Advances in D...