Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples

We applied HiFi long-read sequencing to 191 real-world clinical samples, which included buccal and low-molecular-weight DNA, and were enriched for difficult-to-detect variants. Overall, 99.6% (479/481) of variants were automatically detected with HiFi, showcasing its potential as a single approach for the diagnosis of rare disease.