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Invitae, Pacific Biosciences Collaborate on NGS-Based Pediatric Epilepsy Testing

NEW YORK – Invitae and Pacific Biosciences on Thursday announced a research collaboration that will use long-read next-generation sequencing to help develop diagnostic testing for epilepsy.

Under the terms of the deal, the firms will look for molecular targets and codevelop methods to support new diagnostic epilepsy tests. Invitae will also expand its PacBio sequencing capacity. Financial and other terms of the agreement were not disclosed.

In phase one, the partners will apply single-molecule, whole-genome sequencing using PacBio's HiFi reads to a large cohort of pediatric patients with epilepsy. The sequencing will provide comprehensive variant profiles that will be used to investigate the genetic etiology of epilepsy.

Invitae expects the study to accelerate development of assays to help patients that have been unable to get a diagnosis with short-read sequencing technologies and to facilitate improved treatment options based on specific genetic targets.

"Identifying the many underlying genetic causes of epilepsy is becoming increasingly critical to overall clinical management and prognosis," Robert Nussbaum, Invitae's chief medical officer, said in a statement, adding that for approximately half of people diagnosed with the disease, the underlying cause remains unknown. "Through this research collaboration with PacBio, Invitae aims to develop innovative methods that will provide more accurate answers to individuals living with epilepsy and their healthcare providers," he said.

The study will draw its patient cohort from Invitae's Behind the Seizure program, launched in 2016, which offers free genetic testing to children with epilepsy. Invitae has previously partnered with BioMarin, Stoke Therapeutics, and Xenon Pharmaceuticals on the program.

The deal will help PacBio as it seeks to bring visibility to the use of HiFi sequencing technology in clinical applications. Earlier this month, PacBio announced a collaboration with Children's Mercy Kansas City and Microsoft to improve diagnostic yield for rare disease sequencing.

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