Element Biosciences Inc., developer of a new and disruptive DNA sequencing platform, has partnered with Genoox, a community-driven genomic data platform, to demonstrate the clinical potential of the AVITI system for rare and undiagnosed disease research, using whole genome sequencing.
 
An initial study, in collaboration with Dr. Radha Ayyagari, professor of Ophthalmology and Pathology at the Shiley Eye Institute, UC San Diego, utilized the AVITI platform to sequence DNA from 10 individuals with a rare eye disease. In five of the cases, high confidence candidate variants were identified by the interpretation platform Franklin, developed by Genoox. Pending clinical validation, the anticipated diagnostic yield of the study is 50%.
 
The use of sequencing data in clinical research has grown at a staggering pace, says Element Biosciences. The density of data in genome-wide approaches has resulted in an interpretation bottleneck. The tools developed by Genoox and its unique community speed the interpretation process by rapidly identifying a small set of variants most likely to cause the phenotype of the patients.
 
“We are pleased to partner with Genoox,” said Molly He, Ph.D., CEO, and co-founder of Element. “Our initial study demonstrated how effectively the joint offering works for whole genome sequencing and variant interpretation.”
 
“The accuracy of the sequencing data that is being produced by Element Biosciences and its AVITI system has the power to unlock the value of whole genome sequencing and create lasting impacts for the genomics industry,” said Amir Trabelsi, Ph.D., CEO, and co-founder of Genoox. “Combining the technologies of Element and Genoox enables actionable insights to be drawn from that data.”