Author

P. Peldová

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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. · Genome Medicine · 0 citations