Published on 10 Jan 2022 on Zacks via Yahoo Finance
Pacific Biosciences of California, Inc. PACB, also popularly known as PacBio, recently announced that Radbound University Medical Center (Radboudumc), located in Nijmegen, the Netherlands, will boost their Single Molecule, Real-Time (SMRT) sequencing capacity by adding two new PacBio Sequel IIe Systems. Radboudumc has been utilizing PacBio long-read technology to detect hidden variants causing rare diseases over the past three years.Per management at Radboudumc, workflows have been adapted over time in order to use its Sequel systems in rare disease cases. The quality of the test has improved with the aid of each new system. It has also offered Radboudumc efficiency and ultimately cost-effectiveness.This announcement is likely to provide a boost to PacBio’s robust sequencing technology.
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Per PacBio’s management, around 80% of rare diseases are genetic globally but above 50% of cases remain unsolved due to the existing technology.In fact, the accuracy of HiFi sequencing has led to a massive interest in PacBio whole-genome sequencing (WGS) as a crucial new tool to identify large or challenging variants that are likely to be missed by short-read technology.