Table 1 Characteristics of case cohorts. Benchmark cohort, 119 cases total. Validation cohort, 60 cases total. Grand total, 179 cases
| Â | Assay type | Variant type | Proband sex | Pedigree Type | |||||
|---|---|---|---|---|---|---|---|---|---|
Mode of inheritance | WGS | WES | SNV/Indel | SV | Male | Female | Single | Duos | Trios |
Benchmark cohort | |||||||||
 Autosomal dominant | 70 | 11 | 66 | 15 | 36 | 45 | 35 | 6 | 40 |
 Autosomal recessive | 27 | – | 23 | 4 | 14 | 13 | 9 | 1 | 17 |
 X-linked dominant | 6 | – | 5 | 1 | 1 | 5 | 2 | – | 4 |
 X-linked recessive | 5 | – | 5 | – | 5 | – | 2 | 1 | 2 |
 Sub-totals | 108 | 11 | 99 | 20 | 56 | 63 | 48 | 8 | 63 |
Validation cohort | |||||||||
 Autosomal dominant | 3 | 34 | 37 | – | 10 | 27 | 15 | 2 | 20 |
 Autosomal recessive | 1 | 14 | 15 | – | 5 | 10 | 9 | – | 6 |
 X-linked dominant | 1 | 5 | 6 | – | 3 | 3 | 1 | 3 | 2 |
 X-linked recessive | – | 2 | 2 | – | 2 | – | 1 | – | 1 |
 Sub-totals | 5 | 55 | 60 | 0 | 20 | 40 | 26 | 5 | 29 |