December 12, 2024, Copenhagen –. We are happy to share our latest publication in the esteemed journal Human Genomics: “SCAN: a nanopore-based, cost-effective decision-supporting tool for mass screening of aneuploidies.”
In this paper, we highlight a significant challenge in Newborn Screening (NBS): While these programs in developed countries are designed to detect treatable yet clinically silent disorders, many genetic conditions remain excluded due to high costs and the need for specialized equipment.
Enter SCAN—a novel, non-invasive, and cost-efficient decision-support tool powered by nanopore sequencing and AI. In a proof-of-concept study for Klinefelter Syndrome, SCAN achieved 100% sensitivity, specificity, and accuracy, becoming the world’s first IVD-certified genetic test to utilize long-read sequencing and AI. Ongoing model training shows great promise in expanding the assay to detect all genetic disorders included in NBS protocols.
Read the full article here