Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia

Table 2 Summary of FGFR3 (c.1138G > A) variant in the spike-in DNA samples sequenced at different depths

Spike-in sample (%)	Mean depth	Total depth	Reference Allele depth (G)	Spike-in Allele depth (A)	Calculated minor-Allele frequency (%)^a
10.0	12,580	7379	6356	1023	13.86
5.0		5645	5325	320	5.67
2.5		7080	6808	272	3.84
10.0	16,059	7852	6864	988	12.58
5.0		9043	8551	492	5.44
2.5		7990	7656	334	4.18
10.0	23,904	13,353	11,776	1577	11.81
5.0		8351	7849	502	6.01
2.5		16,835	16,182	653	3.88

^aPaired-t test of spike-in fraction and calculated minor-allele frequency shows no differences between these two groups (P = 0.1105)

ISSN: 1755-8794