HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
B. van der Sanden, C. Betz, K. Herzog, Esther Schamschula, K. Wimmer, Ira Vater, S. Balachandran, Jordi Corominas, Raoul Timmermans, Ronny C. Derks, M. Spielmann, MA Eberle, C.F.H.A. Gilissen, L.E.L.M. Vissers, Johannes Zschocke, , Alexander Hoischen
This study shows that PacBio HiFi long-read sequencing with Paraphase variant caller detects all clinically relevant variants in paralogous regions, improving variant calling accuracy.
The American Journal of Human Genetics · Jun 1, 2026Peer-reviewedGenetic & Genomic Medicine