Table 4. Variant calling results from the validation set.

Filtered variants		NGS Platform
		Illumina MiSeq	Ion torrent PGM
Total	False-positive	0	26
	False-negative	0	16
	True-positive	140	124
	True-negative		982
Pathogenic	False-positive	0	16
	False-negative	0	1
	True-positive	20	19
	True-negative		680