Filtering parameters per patient
| Filtering criterion | III:1 | III:2 | III:3 | Mean |
|---|---|---|---|---|
| Total variant count | 36 290 | 36 304 | 34 867 | 35 820 |
| Retain homozygous variants in autozygous intervals | 258 | 269 | 280 | 269 |
| Retain variants with a dbSNP/ESP5400 minor allele frequency ≤1% | 14 | 13 | 9 | 12 |
| Retain coding and invariant splice-site variants | 7 | 7 | 5 | 6 |