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Pacific Biosciences, Children's Mercy, Microsoft Collaborate on Rare Genetic Disease Diagnostics

NEW YORK – Pacific Biosciences, Children's Mercy Kansas City, and Microsoft said on Thursday that they are collaborating to improve diagnostic yield for rare disease sequencing.

Under the collaboration, PacBio HiFi reads will be applied to "some of our most difficult cases of rare pediatric disease to give patients and families the answers they deserve," Tomi Pastinen, director of the Center for Pediatric Genomic Medicine at Children's Mercy, said in a statement. The study cohort will consist of rare disease patients for whom whole-genome and whole-exome sequencing did not provide answers.

Microsoft will help build Azure cloud-based analysis solutions and a data repository.

In previous studies of rare diseases, WGS and WES identified causal variants in fewer than half of the cases, the collaborators said. Children's Mercy has acquired multiple PacBio Sequel II systems to incorporate HiFi sequencing, which offers longer reads than Illumina sequencing while approaching the same accuracy. In June, an improved Google DeepVariant algorithm using HiFi data achieved 99.9 percent precision and recall for single-nucleotide variants and 99.4 percent precision and recall for indels.

Earlier this month, Children's Mercy announced it had raised $16 million to fund a new initiative to accelerate the search for diagnoses and novel treatments for pediatric genetic conditions.

The organizations will use PacBio's HiFi reads in an attempt to detect disease-causing structural and small variants missed by short-read sequencing platforms. Researchers will evaluate whether HiFi data can reproduce all the variants detected by short-read sequencing methods and determine the rate at which it identifies causal variants that are otherwise overlooked.

"Our HiFi sequencing technology is unique in its ability to provide genetic insights for phenotypes of interest," PacBio CEO Christian Henry said in a statement. "We look forward to making a meaningful impact by increasing solve rates through this important partnership."