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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

2020-02-29

Abstract excerpt

Newborn screening (NBS) was established as a public health program in the 1960’s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems. Genomic sequencing can potentially expand the screening for rare hereditary disorders, but many questions surround its possible use for this purpose. We examined the use of exome se...

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Literature Corpus work
f0d35758-0d1b-55cb-bbce-4321c778cb3b
DOI
10.1101/2020.02.26.20024679
Open publication

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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS ProjectDOI 10.1101/2020.02.26.20024679
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