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.
2019
65
1605-1608
1608
Goal 3: Good health and well-being for people
Bartalucci, Niccolò; Romagnoli, Simone; Contini, Elisa; Marseglia, Giuseppina; Magi, Alberto; Guglielmelli, Paola; Pelo, Elisabetta; Vannucchi, Alessa...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1179803
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