PacBio HiFi WGS resolves hidden disease-linked structural variants in diverse populations

PacBio HiFi WGS resolves hidden disease-linked structural variants in diverse populations
PacBio HiFi WGS boosts SV detection

Pacific Biosciences of California introduces new methods using PacBio HiFi whole genome sequencing (WGS) to enhance the identification of structural variants (SVs) associated with diseases.

In a recent webinar led by Dr. Michael Schatz, the company detailed how this technology is uncovering complex genomic regions and improving SV detection accuracy across a wide range of populations. SVs, which are often challenging to detect, play a significant role in various disease associations. The session highlighted practical approaches for deploying PacBio HiFi WGS to address this critical challenge, potentially paving the way for greater insights in genomic research.

Pacific Biosciences of California recently launched HiFi sequencing aimed at delivering detailed insights into cancer variation for researchers, according to a company statement. The firm has also unveiled PacBio HiFi technology capable of mapping structural variants and novel isoforms in cancer genomics on a single platform, as detailed in a prior announcement. These developments expand the application of PacBio’s technology beyond cancer analysis.

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