Article

Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study

2025-03-13

Abstract excerpt

<h4>Purpose</h4> Genomic sequencing offers the opportunity to screen for hundreds of rare genetic conditions with a single test. To minimise potential negative impact on families and clinical services, it is crucial to reduce false positive results while prioritising clinical utility. Here we present an automated variant prioritisation approach for genomic newborn screening and the assessment of its validity acros...

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Literature Corpus work: fb61186a-4e0d-53d6-80fd-b3e2ae64bebd
DOI: 10.1101/2025.03.12.25323745

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