Table 2.
Mean number of candidate variants for each inheritance mode for a cohort of 149 whole-exome trios and and a cohort of 94 whole-genome trios.
Inheritance mode | Exome GATK | Genome GATK | Genome DeepVariant | Exome GATK impactful | Genome GATK (impactful) | Genome DeepVariant (impactful) | Genome GATK (genic except intronic) |
---|---|---|---|---|---|---|---|
De novo | 1.4 | 434.7 | 178.7 | 1.1 | 3.5 | 1.4 | 13.9 |
Autosomal recessive | 0.5 | 185.0 | 320.7 | 0.4 | 0.7 | 0.8 | 5.3 |
Compound heterozygote | 7.3 | 21.9 | 21.9 | 3.4 | 11.2 | 9.2 | 25.0 |
X-linked recessive | 0.3 | 572.7 | 401.8 | 0.3 | 2.9 | 1.7 | 18.0 |
X-linked de novo | 0.3 | 5.0 | 2.5 | 0.3 | 0.0 | 0.0 | 0.2 |
Autosomal dominant | 102.0 | 10,874.1 | 11704.6 | 68.9 | 112.9 | 99.0 | 653.2 |