Table 3.

QC values obtained following Karyomapping feasibility testing

Sample		Call ratea	AB rateb	ADO ratec	Miscall rated
Parent	Mother	0.98	0.30
	Father	0.98	0.28
Reference	Paternal grandmother	0.98	0.30	0.43	0.14
	Paternal grandfather	0.98	0.29	0.42	0.14
	CVS	0.98	0.29	0.00	0.00

^aThe SNP call rate indicates the percentage of SNPs with a conclusive genotype and should be in the range of 0.95–0.99. If the SNP call rate is ≤ 0.8, the data quality is too poor and a new sample may be required

^bAB rate indicates the heterozygosity levels in the sample and should be in the range of 0.25–0.29 for each gDNA sample. If the AB rate is lower, it can reflect a higher allele dropout rate (i.e. heterozygous AB alleles have been affected by allele dropout and are being incorrectly called as AA or BB). Lower AB rates can also be an indicator of consanguinity (i.e. the couple have SNPs in common due to their shared ancestry and are therefore AA or BB)

^cADO rate indicates the allele dropout rate in each sample. The ADO rate should ideally be 0.00 for sibling references. The ADO for grandparent references will be ~ 0.40 due to the grandparent samples only being related to one partner

^dMiscall rate is an indicator of data quality. The lower the miscall rate the better the data quality. The miscall rate should ideally be 0.00 for sibling references. The miscall rate for grandparent references will be ~ 0.14 due to the grandparent samples only being related to one partner