Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for t...
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (IMD). Next-generation sequencing (NGS) is expected to have some advantages over the current approach,...
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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
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TN_cdi_doaj_primary_oai_doaj_org_article_0a81dc6ddb1e489aa423fa9769bfe43a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0a81dc6ddb1e489aa423fa9769bfe43a
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ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns8010017
