HiFi Solves Consortium Publishes First Major Study Demonstrating the Clinical Research Power of PacBio HiFi Genomes
Pacific Biosciences of California, Inc. (PACB)
Last pacific biosciences of california, inc. earnings: 2/6 04:02 pm
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Source: GlobeNewswire
MENLO PARK, Calif., Nov. 05, 2025 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), developer of the world's most advanced sequencing technologies, today 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 dedicated haplotype-based variant caller, uncovered all known clinically relevant variants present in the study population - even in the hardest-to-sequence regions of the genome - demonstrating its readiness to power the future of clinical discovery. 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 l
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