TABLE 1.

Performance of PGS using nanopore sequencing.

Sample	Run	Barcode	Reads generated in first 2h	Reads generated in 3rd h	UA^a	Full Chromosome CNVs	MinION assay result (using 30K UA reads)
1	1	NB02	56,991	NA	39,842	Female, monosomy22	Female, monosomy 22
2	1	NB03	34,161	NA	31,799	Female, trisomy 19	Female, trisomy 19
3	1	NB04	49,673	NA	40,180	Female, trisomy 22; monosomy x	Female, trisomy 22; monosomy X
4	1	NB06	75,770	NA	40,121	Normal male	Normal male
5	1	NB07	42,579	NA	40,087	Normal female	Normal female
6^b	2	NB02	70,549	32,866	51,878	Female, trisomy 13, monosomy 14	Female, trisomy 13, monosomy 14
7	2	NB03	44,343	19,904	41,742	Female, mosaic trisomy 6; trisomy 15; monosomy 18	Female, Trisomy 15; Monosomy 18^c
8	2	NB04	58,247	25,583	52,040	Normal male	Normal male
9	2	NB06	94,355	43,822	51,889	Male, XXY sex chromosome complement, trisomy 15	Male, XXY sex chromosome complement, trisomy 15
4	2	NB07	54,840	24,421	51,910	Normal male	Normal male

Note: CNV = copy number variation; NA = not available; UA = uniquely assigned.

The first 42,500 reads from each samples in run1 and the first 55,000 reads in each sample in run2 were subjected to aligner to generate UA reads.

Sample 6 is a female, trisomy 13, monosomy 14, and large CNV gain on chromosome 15 (78,914,003–101,997,386) as detected by VeriSeq. The large CNV gain was not significant using 30K reads; it was significant using 60K UA reads.

The mosaic gain on chromosome 6 was not significant using 30K reads; it was significant using 60K UA reads.