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Fabric Genomics Technology Supports Global Scientific Study of Whole Genome Sequencing in Rare Disease Diagnosis

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OAKLAND, Calif. – November 11, 2021 – The New England Journal of Medicine has published findings from a pilot study that has shown how whole genome sequencing (WGS) uncovered new diagnoses for patients across the broadest range of rare diseases. The identification and prioritization of candidate genetic variants were performed with Fabric Genomics’ artificial intelligence (AI)-driven decision-support system and the company’s clinical genetics teams, who analyzed a large portion of the genomes of the 4,660 people in the study, a part of the 100,000 Genomes Project, led by Genomics England, England’s National Health Service (NHS) and Queen Mary University of London.

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