Swedish long-read sequencing pilot diagnoses 161 of 485 rare disease probands
Of 485 probands in a Swedish long-read sequencing pilot, 161 received a molecular diagnosis, and long-read sequencing added clinical value for 40 of them. The preprint, posted to medRxiv on October 13, 2026, ties the Genomic Medicine Sweden Rare Diseases pilot to Genome of Sweden. That project's initial release covers 576 individuals and maps genetic and epigenetic variation. Used as a first-line test, the authors say, long-read sequencing could have avoided at least 42 follow-up analyses.
The work has not been peer reviewed. If the results hold, patients with rare diseases and their clinicians could face fewer follow-up tests.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].