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AI algorithm accurately detects disease-causing variants in infants with rare diseases

Fabric Genomics and Rady Children's Institute for Genomic Medicine today announced the publication of a retrospective study in Genome Medicine showing that across six leading genomic centers and hospitals, researchers were able to detect more than 90% of disease-causing variants in infants with rare diseases using the Fabric GEM AI algorithm and whole-genome and whole-exome data from previously diagnosed newborns and rare disease patients at Rady Children's Hospital - San Diego and other clinical sites. ....

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AI quickly identifies genetic causes of disease in newborns

The finding 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. ....

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Study Shows Fabric's GEM AI Improves Rare Disease Diagnosis

Despite differences in case collection, sequencing methods, and bioinformatics pipelines across all sites, Fabric GEM ranked the causative variant first or second more than 90% of the time in a new study, which included 119 Rady patients, mostly NICU infants, with rare genetic diseases. ....

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