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http://hdl.handle.net/20.500.12188/33911
Наслов: | gMendel® Test-SCAN, a novel Decision-Supporting tool for Mass Screening of Aneuploidies, based on Oxford Nanopore technology | Authors: | Schack, Anne Kristine Garrido Navas, Carmen Galevski, David Nikov, Aleksandar Madjarov, Gjorgji Kyriakidis, Chris Velkoski, Zoran Krych, Lukasz |
Issue Date: | 1-јан-2024 | Publisher: | SPRINGERNATURE | Conference: | EUROPEAN JOURNAL OF HUMAN GENETICS | Abstract: | SEQUENCING TECHNOLOGY has revolutionized over the last decade. Though karyotyping and aneuploidy detection is still carried out with the conventional method, fluorescence in situ hybridization (FISH) [1]. Illumina, a next-generation sequencing technology, has shown to be efficient as a detection method [2]. Despite both FISH and NGS are efficient for detection and karyotyping, they lack the combination of being time-, and cost-efficient [3]. THE gMendel® Test-SCAN demonstrates a cost-effective, end-to-end assay with diagnostic utility for postnatal detection of aneuploidies based on Oxford Nanopore Technologies (ONT) in the combination of Artificial Intelligence. With gMendel® Test-SCAN hundreds of samples can be analyzed simultaneously on a single MinION/GridION Flow Cell in less than 24h with high specificity and sensitivity. Our data analysis platform, Phivea®, is fully automated and perform in real-time using cutting-edge machine learning approaches. | URI: | http://hdl.handle.net/20.500.12188/33911 |
Appears in Collections: | Faculty of Computer Science and Engineering: Conference papers |
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