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

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

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...

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Bibliographic Details
Main Authors: David J. McBride, Claire Fielding, Taksina Newington, Alexandra Vatsiou, Harry Fischl, Maya Bajracharya, Vicki S. Thomson, Louise J. Fraser, Pauline A. Fujita, Jennifer Becq, Zoya Kingsbury, Mark T. Ross, Stuart J. Moat, Sian Morgan
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:International Journal of Neonatal Screening
Subjects:
whole genome sequencing
newborn screening
dried blood spots
DNA sequencing
cystic fibrosis
phenylketonuria
Online Access:https://www.mdpi.com/2409-515X/9/3/52

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