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Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant’s genome relatively quickly and economically. Clinical application of whole-exome and whole...

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Publicat a:Cold Spring Harb Perspect Med
Autors principals: Berg, Jonathan S., Powell, Cynthia M.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4665041/
https://ncbi.nlm.nih.gov/pubmed/26438605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a023150
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