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Challenges of using next generation sequencing in newborn screening

Whole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabol...

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Bibliografische gegevens
Gepubliceerd in:Genet Res (Camb)
Hoofdauteur: REINSTEIN, EYAL
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Cambridge University Press 2015
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6863625/
https://ncbi.nlm.nih.gov/pubmed/26521961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672315000178
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