Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Table 1 Contribution to molecular pathogenic variant detection rate: PCNVs/UPD detected by CMA and/or the QC array in ES cases

Categories	ES patients with CMA (N = 3229)	Total ES patients (N = 11,020)
Total PCNV/UPD	192	373*
PCNVs by CMA	183	183
UPD by CMA	1	1
PCNVs by QC array only	7	181
UPD by QC array only	1**	9
PCNV/UPD detection rate^#	5.9% (189/3226)	3.3% (367/11,014)
SNV detection rate^##	28.5% (919/3220)	28.5% (3145/11,020)
Contribution of PCNV/UPD to diagnoses in molecularly diagnosed cases^	17.4% (189/1089)	10.6% (367/3475)

*One patient (WD8) had both a 0.7 Mb gain in 10q24 and UPD15
**The diagnosis of UPD in patient WU5 was considered to be by QC array only
^#Affected siblings in three families with PCNVs that were detected by CMA, affected siblings in three families with PCNVs detected by the QC array, and affected siblings in nine families with SNVs from ES were counted as one family
^##Does not include cases with autosomal recessive gene deletions or other PCNVs. The SNV detection rate for total ES cases was assumed to be the same as in ES with CMA
^Multiple diagnoses consisting both PCNV/UPD and SNV were detected in 37 unrelated ES patients including 19 patients with CMA

ISSN: 1756-994X