Table 1.

Summary of the ddPCR and amplicon-based NGS results for the detected mosaicism.

Parent	Sample	ddPCR	Amplicon-based NGS	qPCR
father of proband 12	blood	18.5%	rs6727415: 13.9% (A 1259, G 910)	Not tested
			rs1234405: 17.3%(A 1444, C 943)
			rs1234413: 15.9% (C 1203, T 820)
			Average VAF: 15.7%
father of proband 26	blood	undetectable	rs1023367: 7.3% (C 1162, T 993)	0.39%
			rs8132955: 2.3% (A 636, T 607)
			rs218652: 0.7% (A 1470, G 1450)
father of proband 32	blood	6.2%	no informative SNPs	Not tested
mother of proband 38	blood	15.6%	no informative SNPs	Not tested
	buccal	10.6%
	saliva	8.2%
	urine	undetectable

The scale and levels of low-level parental somatic mosaicism are incompletely understood.

We propose an approach for more effective detection of low-level parental somatic mosaicism for CNV deletions for a more accurate assessment and estimate of disease recurrence risk.