Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing

Cost-wise, the full process has a reagent price of about 500 Euros (US$547)/ sample, lower than the cost of conventional karyotype plus arrayCGH assay [about 800 Euros (US$874)/sample]. [...]ONT has the potential to become a standard approach for prenatal diagnosis. Niccolò Bartalucci2 Simone Romagnoli2,3 Elisa Contini2 Giuseppina Marseglia4 Alberto Magi5 Paola Guglielmelli2 Elisabetta Pelo4 Alessandro M. Vannucchi2 2 Department of Experimental and Clinical Medicine, CRIMM, University of Florence, Florence, Italy 3 Department of Medical Biotechnologlies, University of Siena Siena, Italy 4 Department of Laboratory Diagnosis, Genetic Diagnosis Service Careggi Teaching Hospital Florence, Italy 5 Department of Information Engineering, University of Florence Florence, Italy "Address correspondence to this author at: Viale Pieraccini 6 Florence 50139 Italy Fax+39-055-7947688 e-mail amvannucchi@unifi.it Previously published online at DOI: 10.1373/clinchem.2019.310805 1 Nonstandard abbreviations: CVS, chorionic villus sampling; ONT, Oxford Nanopore Technologies sequencing technology; gDNA, genomic DNA; CNA, copy number alteration; VAF, variant allele frequency; CGH, comparative genomic hybridization.