Table 3 Diagnostic yield by WES and WGS in the analyzed cohorts
From: Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
Total positive diagnosis | Cases (n = 31) |
|---|---|
Autosomal dominant | 15 (48.4%) |
De novo | 14 |
Inherited | 1 |
X-linked | 10 (32.3%) |
Dominant | 1 |
Recessive | 9 |
Autosomal recessive | 5 (16.1%) |
Homozygous | 1 |
Compound heterozygous | 4 |
Imprinting | 1 (3.2%) |