WES Parametersa | Proband | Father | Mother |
---|---|---|---|
Captured target size | 39 Mb | 39 Mb | 39 Mb |
% target covered by 10+ reads | 92.2% | 96% | 93.2% |
Mean read depth of target region | 85.6X | 110X | 89.2X |
Total number of SNPs | 47,769 | 50,336 | 48,307 |
Total number of INDELs | 4651 | 4733 | 4642 |
N rare variants | 1018 | 1008 | 932 |
N compound heterozygous variants | 22 (11 genes) | N/A | N/A |
N X-linked | 10 | ||
N de novo eventsb | 11 | N/A | N/A |