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July 25, 2025Open Access

Analytical Validation of a Genomic Newborn Screening Workflow

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Authors

KHKristine HovhannesyanLHLaura HelouBCBenoît Charloteaux

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Overview

Analytical validation confirms accuracy and scalability of next-generation sequencing in newborn screening, addressing disease gaps.

Key Points

  • The tNGS-based newborn screening workflow shows high sensitivity and precision in identifying treatable conditions.
  • Over 5,900 dried blood samples demonstrated consistent performance and reliability in detection methods.
  • Quality control measures were implemented to minimize false positives and ensure clinical actionability.
  • Automation of DNA extraction significantly improved the scalability of the newborn screening process.

Cite This Study

Hovhannesyan et al. (2025) studied this question.

synapsesocial.com/papers/689a0933e6551bb0af8ce324https://doi.org/10.20944/preprints202507.1861.v1
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