Element Biosciences partners with Genoox for a validation project

Genoox will use its genomic data platform to validate Element’s AVITI system.

Element Biosciences, a biotechnology company, announced on March 1, 2022 that it had entered into an agreement with Genoox, a community-based genomic data platform, to validate the clinical potential of its AVITI system. AVITI is Element’s new DNA sequencing platform designed to perform whole genome sequencing in research for rare and undiagnosed diseases.

According to a company press release, while the use of sequencing data in clinical research has increased at a “staggering rate”, the density of data in genome-wide approaches has resulted in a bottleneck of bottleneck in interpretation. The bottleneck can be circumvented by tools such as those developed by Genoox, as these tools can quickly identify small sets of variants most likely to cause the phenotype in patients.

A first study using the AVITI platform sequenced data from ten people with a rare eye disease. In five of these cases, high-confidence candidate variants were identified by Genoox’s Franklin interpretation platform. If these results are clinically validated, the anticipated diagnostic yield of the study will be 50%.

“We are thrilled to partner with Genoox,” Molly He, CEO and co-founder of Element, said in the press release. “Our initial study demonstrated the effectiveness of co-supply for whole genome sequencing and variant interpretation.”

“The precision of sequencing data 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. “The combination of Element and Genoox technologies enables us to derive actionable insights from this data.”

Source: Element Biosciences

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