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Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping

Newborn screening programs are an integral part of public health systems aiming to save lives and improve the quality of life for infants with treatable disorders. Technological advancements have driven the expansion of newborn screening programs in the last two decades and the development of fast,...

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Bibliografiske detaljer
Udgivet i:NPJ Genom Med
Main Authors: Trier, C., Fournous, G., Strand, J. M., Stray-Pedersen, A., Pettersen, R. D., Rowe, A. D.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7474066/
https://ncbi.nlm.nih.gov/pubmed/32944285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00142-z
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