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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%)