The ability to detect fetal chromosomal aberrations is crucial, so that parents and the medical team can discuss different options; therefore, obtaining timely results represents a key variable for appropriate management, and available time is very limited in most instances. Herein, we demonstrate the feasibility of obtaining rapid and unbiased karyotype information by using Oxford Nanopore Technologies sequencing technology (ONT) starting from CVS samples.
Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing / Bartalucci, Niccolò; Romagnoli, Simone; Contini, Elisa; Marseglia, Giuseppina; Magi, Alberto; Guglielmelli, Paola; Pelo, Elisabetta; Vannucchi, Alessandro M. - In: CLINICAL CHEMISTRY. - ISSN 0009-9147. - ELETTRONICO. - 65:(2019), pp. 1605-1608-1608. [10.1373/clinchem.2019.310805]
Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing
Bartalucci, Niccolò;Romagnoli, Simone;Contini, Elisa;Marseglia, Giuseppina;Magi, Alberto;Guglielmelli, Paola;Pelo, Elisabetta;Vannucchi, Alessandro M
2019
Abstract
The ability to detect fetal chromosomal aberrations is crucial, so that parents and the medical team can discuss different options; therefore, obtaining timely results represents a key variable for appropriate management, and available time is very limited in most instances. Herein, we demonstrate the feasibility of obtaining rapid and unbiased karyotype information by using Oxford Nanopore Technologies sequencing technology (ONT) starting from CVS samples.
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