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