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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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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Trier, C., Fournous, G., Strand, J. M., Stray-Pedersen, A., Pettersen, R. D., Rowe, A. D.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Acesso em linha: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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