Article

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks

2026-06-11

Abstract excerpt

<h4>Structured abstract</h4> <h4>Importance</h4> Genomic newborn screening (gNBS) is a potential public health intervention, but its positive predictive value (PPV) remains uncertain. Estimating the prevalence and penetrance of pathogenic and likely pathogenic (P/LP) variants in genes prioritized for screening may clarify the long-term PPV and clinical utility of gNBS. <h4>Objective</h4> To compare ICD-based as...

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Literature Corpus work: aa629fda-54f8-51c1-8ef9-25b41bcf9311
DOI: 10.64898/2026.06.10.26355380

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