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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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Bibliografiske detaljer
Udgivet i:Genet Res (Camb)
Hovedforfatter: REINSTEIN, EYAL
Format: Artigo
Sprog:Inglês
Udgivet: Cambridge University Press 2015
Fag:
Online adgang: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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