Table 1 The total number of structural variant calls, the number of evaluated calls and the diagnostic value increase per ERN. Total number of affected individuals denotes all the affected family members including index cases.
From: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
ERN RND | ERN ITHACA | ERN NMD | ERN GENTURIS | |
|---|---|---|---|---|
Number of affected individuals | 2.343 | 1.892 | 1.632 | 357 |
Number of index patients | 2.2 | 1.821 | 1.499 | 340 |
Known disease genes in gene list | 1.82 | 3.081 | 611 | 230 |
Number of candidate variants, after filtering | 798 | 1.404 | 1.519 | 15 |
Number of samples with SVs, after filtering | 487 | 868 | 606 | 15 |
Number of solved index patients/all affected patients | 7 (0.32%) / 11 | 9 (0.49%) / 9 | 6 (0.4%) / 9 | 1 (0.29%) / 3 |
Percentage of causal SVs among investigated SVs | 1.37% | 0.64% | 0.59% | 20% |
