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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

  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)
  1. aCNVs identified by microarray