Radboud University Medical Center has deployed Pacific Biosciences long‑read whole‑genome sequencing (WGS) as a frontline diagnostic test for selected genetic indications, replacing a basket of traditional tests including exomes, arrays and karyotyping. The Nijmegen center began running patient genomes and parent–patient trios as part of a rollout that expects to sequence up to 5,000 genomes in the first year and scale toward 25,000 annually with partner Maastricht UMC+. Radboud’s clinical implementation follows a prospective comparison against standard‑of‑care modalities presented at the European Society of Human Genetics and signals growing clinical uptake of long‑read platforms for rare disease diagnostics. The program aims to streamline diagnostic workflows and capture variants that short reads miss. Clarification: Long‑read sequencing reads much longer DNA fragments than conventional short‑read platforms, improving detection of structural variants, repeat expansions, and complex genomic regions.
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