SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

BMC Medical Genomics

Table 3 Number of confirmed CNVs and confirmation rate for each tested array

Confirmed CNVs	SNP 6.0	2.7 M	Omni1	CytoSNP	CGX-12	All arrays
Total number (%^a)	48 (19.2%)	24 (11.1%)	57 (30.8%)	24 (96.0%)	27 (46.6%)	180 (72.0%)
Gains (%^b)	28 (13.9%)	13 (7.6%)	30 (38.5%)	15 (93.8%)	14 (51.9%)	100 (20.2%)
Losses (%^c)	20 (40.8%)	11 (25.0%)	27 (25.2%)	9 (100.0%)	13 (41.9%)	80 (33.3%)
De novo (%^d)	17 (12.2%)	11 (7.3%)	12 (34.3%)	7 (87.5%)	25^e (44.6%)	72 (51.8%)
Inherited (%^f)	31 (27.9%)	13 (19.7%)	45 (30.0%)	17 (100.0%)	2 (100.0%)	108 (77.7%)

^aConfirmation rate = number of confirmed CNVs divided by number of detected CNVs by each array, expressed in %.
^bConfirmation rate = number of confirmed gains divided by number of detected gains by each array, expressed in %.
^cConfirmation rate = number of confirmed losses divided by number of detected losses by each array, expressed in %.
^dConfirmation rate = number of confirmed de novo CNVs divided by number of detected de novo CNVs by each array, expressed in %.
^eDe novo or inheritance unknown (parents not systematically tested).
^fConfirmation rate = number of confirmed inherited CNVs divided by number of detected inherited CNVs by each array, expressed in %.

ISSN: 1755-8794