PacBio and GeneDx announce research collaboration with University of Washington

PacBio (PACB) and GeneDx (Nasdaq: WGS) announced a research collaboration with the University of Washington to study the capabilities of HiFi long-read whole genome sequencing, or WGS, to increase diagnostic rates in pediatric patients with genetic conditions. GeneDx will perform WGS sequencing and analysis of samples from 350 people including 120 enrolled in the SeqFirst WGS study at Seattle Children’s Hospital, as well as their biological parents-duos and trios-as available. Both short- and long-read WGS will be performed as researchers explore whether novel variants not previously accessible via short-read sequencing technologies may underlie certain genetic conditions. SeqFirst, sponsored by GeneDx and in part funded by the Brotman Baty Institute, is a hub for genomic research and precision medicine, and a collaboration among three Seattle research institutions-UW Medicine, Seattle Children’s Hospital, and Fred Hutchinson Cancer Center. PacBio has previously partnered with Google (GOOG) to implement the deep learning method DeepConsensus on the Revio system and improve long-read whole genome sequencing performance with DeepVariant. Google has expanded upon this earlier technical collaboration to contribute funding for this research study.