A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden
Adam Ameur, Fulya Taylan, Marlene Ek, Jesper Eisfeldt, Susana Häggqvist, Maria Pettersson, Ignas Bunikis, Joakim Klar, Ida Höijer, Maria Strandh, Rebecca Josefson, Michela Barbaro, Anna Beskow, Anders Blomberg, Marie-Louise Bondeson, , Hans Ehrencrona
This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.
medRxiv · Oct 13, 2026 · PreprintGenetic & Genomic Medicine