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Article

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

Studies in health technology and informatics - 7 Aug 2025

Ma Haotian, Xu Zihan, Chung Wendy, Weng Chunhua, Peng Yifan

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40775829
DOI: 10.3233/SHTI250811
PMCID: PMC12976955

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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