Genetic sex validation for sample tracking in next-generation sequencing clinical testing

BMC Research Notes

Table 1 Comparison of genetic sex determined in various assays and reported sex on test requisition

Sequencing site	Total	Sample providing site	Sex on test requisition	Sex from 1st Fluidigm array	Sex from 2nd Fluidigm array	Sex from Illumina array	Sex from sequencing data	Sample number
BCM-HGSC-CL	73	Site 1	Male	Female	Female	Female	–	5
		Site 1	Female	Male	Male	Male	–	5
		Site 2	Male	Female	Female	Female	–	13
			Male	Female	Klinefelter	Female	–	1
			Female	Male	Male	Male	–	7
		Site 3	Male	Female	Female	Female	–	3
			Female	Male	Male	Male	–	3
			Female	Male	Male	NA^a	–	1
		Site 4	Male	Female	Female	Female	–	7
			Female	Male	Male	Male	–	9
			Male	Klinefelter	Female	NA^a	–	1
		Site 5	Male	Female	Female	Female	–	6
			Male	Female	No Call	Female	–	1
			Female	Male	Male	Male	–	4
		Site 6	Male	Female	Female	Female	–	4
		Site 6	Female	Male	Male	Male	–	3
LMM/broad	37	Site 7	NA^b	Female	–	–	Female	1
			Female	NA^c	–	–	Male	1
			Male	Female	–	–	Female	16
			Female	Male	–	–	Male	13
		Site 8	Male	Female	–	–	Female	1
		Site 9	Male	Female	–	–	Female	1
		Site 9	Female	Male	–	–	Male	2
		Site 10	Male	Female	–	–	Female	1
		Site 10	Female	Male	–	–	Male	1

ISSN: 1756-0500