SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies.

Autor: Schack AK; gMendel ApS, Fruebjergvej 3, 2100, Copenhagen, Denmark. anne_k_schack@live.dk.; Food Microbiology and Fermentation, University of Copenhagen, Copenhagen, Denmark. anne_k_schack@live.dk., Garrido-Navas MC; CONGEN, Genetic Counselling Services, C/Albahaca 4, Granada, Spain.; Facultad de Humanidades y Ciencias de la Educación, Departamento de Didáctica de las Ciencias, Universidad de Jaén, Campus Las Lagunillas s/n, Jaén, Spain., Galevski D; Faculty of Computer Science and Engineering, University Ss Cyril and Methodius, Skopje, North Macedonia.; Netcetera, Zypressenstrasse 71, 8040, Zurich, Switzerland., Madjarov G; Faculty of Computer Science and Engineering, University Ss Cyril and Methodius, Skopje, North Macedonia., Krych L; Food Microbiology and Fermentation, University of Copenhagen, Copenhagen, Denmark.; GenXone S.A., 60-476, Poznan, Poland.
Jazyk: angličtina
Zdroj: Human genomics [Hum Genomics] 2024 Nov 22; Vol. 18 (1), pp. 131. Date of Electronic Publication: 2024 Nov 22.
DOI: 10.1186/s40246-024-00690-w
Abstrakt: 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 of chromosomes responsible for the most common aneuploidies. SCAN combines DNA enrichment (amplification), barcoding, nanopore sequencing, and machine learning predictive modeling. 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 utilising nanopore sequencing. Further model training shows promise in expanding this assay to detect other chromosomal aneuploidies included in the protocol.
Competing Interests: Declarations. Competing interests: The authors declare the following competing interests: AKS’s PhD project is financed by gMendel ApS. Remaining authors declare no competing interests.
(© 2024. The Author(s).)
Databáze: MEDLINE
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