2024
DOI: 10.1186/s40246-024-00690-w
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SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies

Anne Kristine Schack,
M. Carmen Garrido-Navas,
David Galevski
et al.

Abstract: In developed countries, Newborn Screening (NBS) programs aim to detect treatable yet clinically silent disorders. The selection of disorders to be included in NBS considers severity, treatment availability, prevalence, and analysis cost. However, numerous genetic disorders remain excluded from routine testing due to high expenses and specialized equipment requirements. Here we present SCAN, a novel, non-invasive, and cost-effective decision-support tool utilizing nanopore sequencing for estimating proportions … Show more

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