SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies
Journal
Human Genomics
Date Issued
2024-11-22
Author(s)
Schack, Anne Kristine
Garrido-Navas, Carmen
Galevski, David
Madjarov, Gjorgji
Krych, Lukasz
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 special‑
ized 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 ane‑
uploidies. 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, specific‑
ity, 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.
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 special‑
ized 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 ane‑
uploidies. 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, specific‑
ity, 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.
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