Pacific Biosciences of California applies Kivvi with PacBio HiFi data to detect all 11 contracted D4Z4 alleles

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Pacific Biosciences of California applies Kivvi with PacBio HiFi data to detect all 11 contracted D4Z4 alleles — Pacific Biosciences details Kivvi findings

Pacific Biosciences of California announced that all 11 contracted D4Z4 alleles were detected using the Kivvi tool with PacBio HiFi data.

According to a recent preprint, Kivvi enables detailed characterization of repeat size, sequence, chromosome origin, and methylation in facioscapulohumeral muscular dystrophy (FSHD) research. The development suggests broader applications in genetic research and analysis.

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Pacific Biosciences of California has recently focused on expanding access to its HiFi sequencing platform, launching the Vega SPRQ-Nx system for biopharma research. The company has also provided its sequencing technology to a global undiagnosed disease hackathon in Singapore, supporting new applications in clinical research. These initiatives align with its continued efforts to advance genomics solutions.

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