Table 2 Results of WES and/or WGS for 371 DD/ID-affected individuals
From: Genomic diagnosis for children with intellectual disability and/or developmental delay
| Â | SNV/indel | CNV | ||||
|---|---|---|---|---|---|---|
Assay (Affected individuals) | Pathogenic (n(%)) | Likely pathogenic (n(%)) | VUS (n(%)) | Pathogenic (n(%)) | Likely pathogenic (n(%)) | VUS (n(%)) |
Exome (127) | 26 (20.4) | 12 (9.4) | 14 (11.0) | 2 (1.6)a | 0 (0) | 0 (0) |
Genome (244) | 44 (18.0) | 10 (4.1) | 25 (10.2) | 5 (2.0) | 1 (0.4) | 3 (1.2) |
Exome and genome (total individuals = 371) | 70 (18.9) | 22 (5.9) | 39 (10.5) | 7 (1.9) | 1 (0.3) | 3 (0.8) |