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Pacific Biosciences, Rady Children's Collaborate on Study of WGS-Based Rare Disease Dx

NEW YORK – Pacific Biosciences and the Rady Children's Institute for Genomic Medicine, or RCIGM, said on Wednesday they are collaborating on a study using whole-genome sequencing to diagnose rare diseases.

The study, already underway, will focus on using long-read sequencing in cases of rare disease for which short-read whole-genome and whole-exome sequencing did not provide a diagnosis. Already, the partners have detected missense mutations in known disease genes, they said in a statement.

"PacBio HiFi sequencing can identify numerous variants, both small and structural, that are not readily detectable by short-read sequencing," Matthew Bainbridge, associate director of clinical genomics at RCIGM, said in a statement. "We sequenced this cohort of patients to 10-to-30x depth of coverage using [HiFi sequencing] to assess whether there was an increase in the identification of these variants."

Financial and other terms of the collaboration were not disclosed.

Rady Children's joins a growing list of partners for PacBio as the company tries to make the case for clinical whole-genome long-read sequencing, especially in pediatrics. The Menlo Park, California-based sequencing technology company has a similar partnership with Children's Mercy Kansas City and Microsoft. It is also collaborating with Invitae to develop a clinical WGS platform and WGS-based testing for pediatric epilepsy.

In 2018, Rady Children's launched a $2 million pilot project to offer rapid WGS to critically ill newborns.