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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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Perspect Med
Main Authors: Berg, Jonathan S., Powell, Cynthia M.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2015
Assuntos:
Acesso em linha: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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