The total number of genetic variants found during the diagnostic screening process
| Type | Hom | Het | Hemi | Het–het | Total |
|---|---|---|---|---|---|
| Raw calls | |||||
| SNVs | 46 405 | 90 981 | 338 | 82 | 137 806 |
| Indels | 2182 | 3653 | 12 | 22 | 5869 |
| Total | 48 587 | 94 634 | 350 | 104 | 143 675 |
| Clinically analysed | |||||
| SNVs | 166 | 4172 | 20 | 0 | 4358 |
| Indels | 27 | 150 | 7 | 0 | 184 |
| Total | 193 | 4322 | 27 | 0 | 4542 |
| Clinically reported | |||||
| SNVs | 58 | 252 | 9 | 0 | 319 |
| Indels | 31 | 48 | 4 | 0 | 83 |
| Total | 89 | 300 | 13 | 0 | 402 |
The zygosity of raw calls and clinically analysed variants is estimated from the sequencing read pileups of next-generation sequencing (NGS) data. The zygosity of clinically reported variants is confirmed through an alternative technique. hom, homozygous variants; het, heterozygous variants, hemi, hemizygous variants found on chrX in males; het–het, variants with two unique alternative alleles differing from the reference allele (hg19).