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Published on 6 Jan 2022 on Zacks via Yahoo Finance

PacBio (PACB) Ties Up to Boost Rare Disease Diagnosis in Canada


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Pacific Biosciences of California, Inc. PACB, also popularly known as PacBio, recently partnered with Care4Rare Canada Consortium (“Care4Rare”) in order to study some of the most complicated unexplained rare disease cases within Canada. It is worth mentioning that the study will utilize PacBio’s HiFi long-read whole genome sequencing (WGS) technology to learn about rare disease samples, already sequenced with short-read WGS technology, but for which no genetic variant was found.Care4Rare, which is led out of the CHEO Research Institute affiliated with the University of Ottawa, comprises 21 academic sites throughout Canada. It is recognized internationally as a pioneer in the genomics and personalized medicine space.Per management at CHEO Research Institute, PacBio’s HiFi sequencing will aid in the exploration of new areas of the genome that will help accelerate diagnostic care and offer insights into new avenues of biology.The latest research collaboration is expected to significantly strengthen PacBio’s global genetic analysis business.

Rationale Behind the Collaboration

It is noteworthy to mention that there are above 7,000 rare diseases that impact around one million Canadians with the cause of more than one-third of such diseases being unknown.

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