Article
VUSVista: Enhancing the Curation of Variants of Uncertain Significance
2025-12-05
Abstract excerpt
<h4>Background</h4> The increased demand for genomic sequencing has consequently led to a rise in the number of Variants of Uncertain Significance (VUS), which are classified as such due to insufficient evidence to determine their pathogenicity. VUS lead to incomplete diagnosis for patients, potentially causing anxiety due to the uncertainty associated with VUS and resulting in suboptimal management. <h4>Results<...
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Identifiers and source
- Literature Corpus work
- 210f97af-b098-5353-aec2-dc52d181b048
- DOI
- 10.64898/2025.12.02.691669
