Article

A Pilot Meta-research on Evolving Evidence Behind Genetic Variant (Re)Classification

2025-04-09

Abstract excerpt

Variant classification and reclassification are fundamental to advancing precision medicine. This study focuses on the reclassifications of variants of uncertain significance (VUS) in BRCA1 and BRCA2 genes. By analyzing 162 unique cited publications supporting VUS reclassifications, we examined the accuracy, completeness, and currency of citations to these publications. Our findings reveal missing or inadequate ev...

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Literature Corpus work: 4d5e29a5-2d4c-562a-a6ce-f79a354fafa5
DOI: 10.1101/2025.04.07.25325116

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