Article

Analytical Validation of a Genomic Newborn Screening Workflow

2025-07-23

Abstract excerpt

Newborn Screening (NBS) has evolved significantly since its inception, yet many treatable rare diseases remain unscreened due to technical limitations. The BabyDetect study used a targeted next-generation sequencing (tNGS) panel to expand NBS to treatable conditions not covered by conventional screening. We present here the analytical validation of this workflow, assessing sensitivity, precision, and reproducibili...

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Literature Corpus work: bdbf7db0-b82f-5a17-92b6-2324fc3b6c7d
DOI: 10.20944/preprints202507.1861.v1

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