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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,...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:NPJ Genom Med
Prif Awduron: Trier, C., Fournous, G., Strand, J. M., Stray-Pedersen, A., Pettersen, R. D., Rowe, A. D.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2020
Pynciau:
Mynediad Ar-lein: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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