Table 2.
Computational approaches adopted by different groups.
| Group | Annotation | Gene-Phenotype | Variant impact | Filters | Inheritance model | |||
|---|---|---|---|---|---|---|---|---|
| ID | Submission | Name | Frequency | Low quality | ||||
| 1 | 1.1 | Mooney-Radivojac | ANNOVAR | HGMD, PhenoPred, and PPI for network propagation | MutPred2 and MutPredLOF | - | - | - |
| 2 | 2.1 | Moult Lab | Varant | OMIM+GHR, OMIM+HPO |
13 levels of variant impact | SNVs >1%, SNVs in LCR low complexity region | yes | yes |
| 2.2 | ||||||||
| 2.3 | ||||||||
| 2.4 | ||||||||
| 2.5 | ||||||||
| 2.6 | ||||||||
| 3 | 3.1 | Lichtarge Lab | ANNOVAR | Diffusion on CTD (Comparative Toxicogenomics Database) associations | Evolutionary Action | No | yes | no |
| 3.1 | ||||||||
| 3.3 | ||||||||
| 4 | 4.1 | Brenner Lab | CHESS v0.1 | Phenolyzer | VEP, REVEL score | SNVs MAF>5% | yes | yes |
| 4.2 | ||||||||
| 4.3 | ||||||||