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

Mazzarotto, Francesco;Kalay, Özem;Arslan, Elif;Cinquina, Valeria;Buchan, Rachel J.;Bertini, Valeria;Cavanagh, Esmé;Turgut, Deniz;Allouba, Mona;Afify, Alaa;Halawa, Sarah;Theotokis, Pantazis;Budak, Gungor;Girolami, Francesca;Azzu, Alessia;Peldova, Petra;Matthews, Nik;Pennell, Dudley J.;Bonaventura, Jiri;Olivotto, Iacopo;Pelo, Elisabetta;Colombi, Marina;Macek, Milan;Barton, Paul J. R.;Aguib, Yasmine;Yacoub, Magdi;Ritelli, Marco;Gennarelli, Massimo;Tetikol, H. Serhat;Walsh, Roddy;Ware, James S.;Jain, Amit

2026-01-01