PacBio announces publication of new preprint on HiFi sequencing

PacBio (PACB) announced the publication of a new preprint from the HiFi Solves EMEA Consortium, “HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.” The study shows that PacBio HiFi sequencing combined with Paraphase, a haplotype-based variant caller, uncovered all known clinically relevant variants present in the study population. From five institutions across Europe, in a cohort of 86 individuals carrying 125 known pathogenic variants across 11 complex genomic regions, HiFi sequencing combined with Paraphase detected all 125 clinically relevant variants in the study. The work represents the strongest validation to date of HiFi Solves’ founding goal: to show that high-accuracy long reads can bridge today’s research with tomorrow’s clinical utility.