Radboud University Medical Center in the Netherlands began offering frontline diagnostic whole‑genome sequencing (WGS) using Pacific Biosciences long‑read technology for genetic eye diseases and severe intellectual disability. The center plans to sequence up to 5,000 genomes in the first year to replace multiple traditional modalities (karyotype, microarray, targeted panels, exome). The clinical rollout follows a prospective comparison of long‑read WGS against standard‑of‑care across 1,000 samples presented earlier this year. Radboud researchers argue long reads resolve structural variation and repeat regions that short reads miss, enabling consolidation of diagnostic workflows into a single test for many germline indications. If other centers and national systems adopt long‑read diagnostics, PacBio’s technology could capture a larger share of clinical sequencing markets and accelerate genetic diagnoses for rare disease patients.
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