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Author

F. Girolami

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Open access Aug 2026

Impact of variant reclassification on genetic testing yield and clinical outlook in patients with hypertrophic cardiomyopathy.

Systematic reclassification of genetic variants led to a refinement of variant classification accuracy due to downgrading of 5.5% of P/LP variants, although 18.3%VUS/B/LB were upgraded to P/LP.

A. Del Franco, Valeria Setti, Federica Colio et al. · 0 citations
Open access Aug 2026

Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies

The results indicate that pangenome-based workflows aid improved detection of large variants from targeted sequencing data in the clinical context and suggest that they may contribute to more unified variant detection frameworks for all-size genetic variants in the future.

F. Mazzarotto, Özem Kalay, E. Arslan et al. · 0 citations

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