Taksina Newington on Muck Rack

Taksina Newington

As seen in: MDPI
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Articles

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

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By David McBride, David Mcbride, Claire Fielding, Taksina Newington, Alexandra Vatsiou
| MDPI
1. Introduction Newborn screening (NBS) plays a vital role in healthcare systems for the prompt identification of individuals who may develop one of a set of rare, but severe health conditions [1]. In the UK, for example, dried blood spot (DBS) specimens are routinely collected at 4–5 days of age and are sent to regional screening laboratories for analysis.
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