GenomeWeb looks at two recent studies that lend support to Fabric Genomics’ artificial intelligence-based algorithm in helping to diagnose genetic diseases, providing further validation of the end-to-end software tool intended to help labs launch genomic testing programs.
New England Journal of Medicine publication showcases technology-driven variant detection platforms in accurately identifying causative genetic mutations
Pivotal study led by Fabric Genomics and Rady Children’s Institute for Genomic Medicine demonstrates that artificial intelligence can enable the accurate and rapid clinical diagnosis of rare diseases in critically ill newborns based on whole-genome or whole-exome analyses
The benchmark finding, published in Genomic Medicine, foreshadows the next phase of medicine, where technology helps clinicians quickly determine the root cause of disease so they can give patients the right treatment sooner.
In a study involving 56 rare genetic disease cases with causal SVs, Fabric GEM – Fabric Genomics’ AI gene-ranking algorithm – provided a unified approach to analyzing SVs and SNVs in a single step, correctly identifying 96 percent of these SVs. Moreover, GEM identified the causal SV in the top five list of all candidates (SVs and SNVs) 93 percent of the time, requiring review of fewer than five candidates per case.
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 Genomics, a global leader in clinical interpretation of genomic data, announced today the launch of Fabric GEM, a novel algorithm that quickly and efficiently identifies the likely genetic cause of rare diseases from next-generation sequencing data – enabling faster diagnosis and the possibility of faster and more effective treatment.
Watch the talk by Francisco De La Vega to see how panel testing with Fabric ACE enables clinical labs to perform rapid genomic interpretation to uncover critical insights that reduce costs and save lives.
Clinical genomic testing and next-generation sequencing (NGS) are integral parts of realizing the potential of precision medicine, but the data complexity and technical integrations needed to make genomic data clinically meaningful and routinized have slowed mainstream adoption of these breakthrough technologies. Today, Fabric Genomics, a global leader in clinical interpretation of genomic data, announced a
Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) and its partners, including Fabric Genomics, have today published in Science Translational Medicine a new study documenting the process to diagnose rare genetic diseases in record time. This new method speeds answers to physicians and allows increased use of genome sequencing
