Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

Table 1 The comparison between the observed and expected AAF in parental pooled samples

Type of pool	M/F	# of variants evaluated	Mean AAF (%)	Median AAF (%)	Minimal AAF (%)	Maximal AAF (%)	Expected mean AAF (%)
2-sample	M	15	24.53	25.00	14.89	29.41	25
2-sample	F	23	21.13	22.22	10	29.07	25
3-sample	M	18	15.14	15.90	8.7	21.43	16.67
3-sample	F	12	15.37	14.43	9.33	26.98	16.67

The varians considered for the evaluation of differences between the observed and expected AAF in parental pooled samples include familial causative variants (i.e. observed in probands and corresponding parental pool) and rare P and LP variants for autosomal recessive disorders and F5 gene FVL variant. The observed mean AAF (%) and expected mean AAF (%) are marked in bold. M—mother (maternal pool), F—father (paternal pool)

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