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Pacific Biosciences, Care4Rare Canada Consortium Collaborate on Rare Disease Research

NEW YORK ­­– Pacific Biosciences said on Wednesday that it is collaborating with the Care4Rare Canada Consortium to study complex cases of rare disease with whole-genome sequencing.

The partners will use PacBio's HiFi long-read sequencing technology to study rare disease samples that have already been sequenced with short-read technology, but for which no causative genetic variants were identified.

"Care4Rare launched the C4R-SOLVE project in 2018 to work to identify the genetic cause of the most difficult-to-solve rare diseases and to facilitate the introduction of genome-based clinical diagnostic tests into the diagnostic care pathway for all Canadians with a suspected rare disease," Kym Boycott, a senior scientist at the Children's Hospital of Eastern Ontario (CHEO) Research Institute and chair of the hospital's department of genetics, said in a statement. "Over the years we have used many technologies with great success to provide answers for many families, but there still remain some families for which we are unable to get an answer because their genetic change is hidden to the currently available technologies. We know that PacBio's HiFi sequencing will allow us to explore new areas of the genome to find answers for these families, thereby advancing diagnostic care as well as providing insights into new areas of biology."

Care4Rare includes 21 academic sites across Canada, led by the CHEO Research Institute, which is affiliated with the University of Ottawa.

PacBio has entered into similar collaborations before. Last month, it announced a partnership with the University of California, Los Angeles to add RNA isoform sequencing to long-read sequencing in rare disease diagnostics. Children's Mercy Kansas City and Rady Children's Institute for Genomic Medicine have each partnered with PacBio on rare disease diagnostics, as well.

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