gMendel® Test-SCAN, a novel Decision-Supporting tool for Mass Screening of Aneuploidies, based on Oxford Nanopore technology

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.