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Pacific Biosciences of California announced new research published in the American Journal of Human Genetics, spotlighting the EMEA Consortium's findings that combining a single PacBio HiFi whole genome with Paraphase enables resolution of clinically significant variants in highly homologous genes and pseudogenes.
This method addresses a longstanding gap in clinical genomics, where complex genomic regions are often difficult to assess accurately. The study may pave the way for more precise diagnostics and personalized treatment strategies as the capability to distinguish variants improves.
Pacific Biosciences recently unveiled an Ampli-Fi workflow that allows labs to achieve HiFi sequencing with lower DNA input. The company has also introduced a HiFi Starter Kit designed to streamline sequencing projects and improve sample preparation efficiency. These efforts expand PacBio’s offerings as new research highlights advancements in variant detection.