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Genoox will use their genomic data platform to validate Element's AVITI system.
Element Biosciences, a biotechnology company, announced on March 1, 2022 that it has entered into an agreement with Genoox, a community-driven genomic data platform, to validate the clinical potential of its AVITI system. AVITI is Element’s new DNA sequencing platform that is designed to perform whole-genome sequencing in research concerning rare and undiagnosed diseases.
According to a company press release, while the use of sequencing data in clinical research has grown at a “staggering rate”, the density of data in genome-wide approaches has resulted in an interpretation bottleneck. The bottleneck can be circumnavigated by tools such as those developed by Genoox, as these tools can rapidly identify small sets of variants most likely to cause the phenotype of the patients.
An initial study using the AVITI platform sequenced the data of ten individuals with a rare eye disease. In five of these cases, high confidence candidate variants were identified by Genoox’s interpretation platform Franklin. Should these results be clinically validated, the anticipated diagnostic yield of the study will be 50%.
“We are pleased to partner with Genoox,” said Molly He, CEO and co-founder of Element, in the press release. “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, CEO and co-founder of Genoox, in the press release. “Combining the technologies of Element and Genoox enables actionable insights to be drawn from that data.”
Source: Element Biosciences