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A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities

17 Oct 2025

Abstract excerpt

Importance: Next-generation sequencing (NGS) has the potential to revolutionize newborn screening (NBS) by enabling the early identification of actionable genetic conditions not detectable by traditional methods. However, its integration into routine screening programs remains limited due to challenges related to feasibility, interpretation, and clinical impact. Objective: To investigate the acceptability and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41105405
DOI: 10.1001/jamanetworkopen.2025.38198

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