Table 3. Variant calling results.

	Training Set				Validation Set
	GS Juniora	+Visual review	+HP Kit	+Sanger	GS Juniora	+Visual review	+HP Kit	+Sanger
True +	202	202	214	227	122	122	123	123
True−	613 161	613 662	613 662	613 673	347 619	347 783	347 783	347 787
False+	512	11	11	0	168	4	4	0
False−	12	12	0	0	1	1	0	0
Variants in low coverage	13	13	13	0	0	0	0	0
Sensitivity	0.88987	0.88987	0.94273	1.00000	0.99187	0.99187	1.00000	1.00000
Specificity	0.99917	0.99998	0.99998	1.00000	0.99952	0.99999	0.99999	1.00000

^aAfter applying filters 1+2+3.