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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Detalles Bibliográficos
Autores principales: McBride, David J., Fielding, Claire, Newington, Taksina, Vatsiou, Alexandra, Fischl, Harry, Bajracharya, Maya, Thomson, Vicki S., Fraser, Louise J., Fujita, Pauline A., Becq, Jennifer, Kingsbury, Zoya, Ross, Mark T., Moat, Stuart J., Morgan, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10532340/
https://www.ncbi.nlm.nih.gov/pubmed/37754778
http://dx.doi.org/10.3390/ijns9030052

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