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Element Biosciences, Inc., developer of a new and disruptive DNA sequencing platform, announced a partnership 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 5 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. The density of data in genome-wide approaches has resulted in an interpretation bottleneck. The tools developed by Genoox and its unique community greatly 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, CEO, and co-founder of Genoox. “Combining the technologies of Element and Genoox enables actionable insights to be drawn from that data.”
About Genoox
Genoox harnesses the power of its community to enable actionable insights from the most diverse genomic database supporting geneticists and expert physicians at the point of care. Genoox’s cloud-based AI platform, Franklin, connects clinicians, genetic counselors and healthcare organizations, while enabling platform users to make impactful discoveries using the most advanced genomic tools and applications. Genoox is used by over 1,700 health organizations, hospitals, and medical facilities in 44 markets across the globe.
About Element Biosciences, Inc.
Element Biosciences is a multi-disciplinary life science company currently focused on developing disruptive DNA sequencing technology for research and diagnostic markets. Through innovating every fundamental element of a sequencing system, Element will empower customers with affordable, high-quality data and an improved user experience, which in turn will accelerate scientific discoveries and broaden the use of genomic medicine.
