In a step toward the full realization of genomic medicine, Fabric Genomics, a leader in AI-based genomic analysis and interpretation, has announced a co-marketing agreement that will provide translational researchers around the world with integrated sample prep to reporting workflows. Combining Roche’s newly released KAPA HyperExome Probes (RUO) with the Fabric Enterprise bioinformatics and analysis platform will make genetic research faster, less costly and more accurate by providing an end-to-end solution from sample prep through analysis.
Fabric Genomics pioneered AI-driven genomic interpretation, and its Fabric Enterprise software platform for genomic data analysis and reporting is in use by clinical research laboratories, healthcare institutions and country sequencing programs around the world, including Rady Children’s Institute for Genomic Medicine, LabCorp and Genomics England. Last week Fabric Genomics released Fabric GEM, a novel algorithm that quickly identifies the likely genetic cause of rare diseases; the new technology is fully integrated within the Fabric Enterprise platform.
Roche’s exome sequencing workflow includes the KAPA HyperPrep and HyperPlus library preparation kits and exome probes, which allow users to quickly prepare samples for sequencing while delivering high on-target rates and 98% sensitivity for SNP detection.
In addition to improving turnaround times for genomic sequencing, the combination of these technologies will allow laboratories to increase automation and lower operational costs with improved scalability. Clinical research labs that are expanding assay menus will benefit from reduced costs of development and faster validation.
“Clinical research labs have a need to take a collected sample from library prep quickly, all the way through to analysis, and our agreement with Roche demonstrates our commitment to supporting these critical workflows,” said Martin Reese, PhD, co-founder and CEO of Fabric Genomics. “Using our Fabric Enterprise analysis platform with Roche KAPA HyperExome Probes ensures high coverage of disease-causing genes, which is of the utmost importance in accelerating the identification of rare variants. Combining these technologies into a single workflow will lead to higher quality results and increased reliability of sequencing-based diagnostics in routine care. With widespread adoption of sequencing technology innovation, we can further our shared goal of improving personalized care.”
KAPA products are for research use only (RUO). Not for use in diagnostic procedures.
About Fabric Genomics
Headquartered in Oakland, California, Fabric Genomics was founded by industry veterans and innovators with a deep understanding of bioinformatics, large-scale genomics and clinical diagnostics. Fabric Genomics is making genomics-driven precision medicine a reality. The company also provides clinical decision-support software that enables clinical labs, hospital systems and country sequencing programs to gain actionable genomic insights, resulting in faster and more accurate diagnoses and reduced turnaround time. Fabric’s end-to-end genomic analysis platform incorporates proven AI algorithms, and has applications in both hereditary disease and oncology.