Comparative performance of EyeG2P, Exomiser and Genomics England tiering approaches to identify disease-causing variants from whole genome sequencing data for 10 individuals with ophthalmic disorders
| Case | Number of variants (molecular diagnosis) | Number of variants (EyeG2P) | Precision (EyeG2P, %) | Number of variants (updated tiering) | Precision (updated tiering, %) | Rank (Exomiser) | Precision (Exomiser, %) |
| 1 | 2 | 8 | 25 | 5 | 40 | 1 | 7 |
| 2 | 1 | 8 | 13 | 6 | 17 | 1 | 1 |
| 3 | 2 | 11 | 18 | 7 | 29 | Not found | – |
| 4 | 2 | 4 | 50 | 7 | 29 | 2 | 1 |
| 5 | 2 | 7 | 29 | 4 | 50 | 1 | 0.3 |
| 6 | 1 | 9 | 11 | 6 | 17 | 2 | 0.2 |
| 7 | 1 | 3 | 33 | 8 | 13 | 2 | 2 |
| 8 | 2 | 7 | 29 | 3 | 33* | Not found | – |
| 9 | 2 | 10 | 20 | 5 | 20* | Not found | – |
| 10 | 2 | 9 | 22 | 4 | 50 | 2 | 0.2 |
Updated tiering numbers presented include tier 1, tier 2 and TierA variants.
*Complete molecular diagnosis not found.