NEW YORK – Pacific Biosciences and Radboud University Medical Center said on Wednesday that they have partnered to evaluate long-read, whole-genome sequencing (WGS) as a first-line clinical assay for rare disease.
Under the terms of the deal, they will study the genetic causes of rare disease as well as the feasibility and cost effectiveness of using PacBio's HiFi sequencing technology as part of routine clinical use.
"We believe the recent advances in throughput and cost brought by the Revio sequencing system will enable Radboud UMC to test thousands of samples by long-read WGS all within a single center," Alexander Hoischen, associate professor of genomic technologies and immunogenomics at the center, said in a statement. "This will allow us to study the potential clinical utility and better understand the health economics of bringing highly accurate HiFi sequencing in a clinical setting on a large scale."
PacBio said it will both donate reagents and provide discounted consumables, as well as workflow and bioinformatics expertise.
Other details of the partnership were not disclosed.
The partnership adds to PacBio's collection of efforts using long-read sequencing to study and diagnose rare disease. The firm also has projects going with the Rady Children's; the University of California, Los Angeles; Boston Children's Hospital, Children's Mercy Hospital, and the Care4Rare Canada Consortium.