Table 3.
A set of prediction tools specialized to predicting the disease-driver status of variants in the human cancer genome. Although the generic predictors of Tables 1 and 2 have been used successfully for variant prediction in the cancer genome, more specialized methods would be expected to achieve higher test accuracy. As for generic predictors, some methods are trained directly from data, while others, such as CanDrA and TransFIC, use predictions from pre-existing variant effect predictors
| Name | Method and features used | Reference |
|---|---|---|
| CHASM | Random Forest method using evolutionary and structural features. | Carter et al. [29] Tokheim et al. [41] |
| CRAVAT4 | An evolving suite of informatics tools for mutation interpretation and impact prediction. | Masica et al. [38] |
| CScape | Gradient boosting (sequential learner) using evolutionary and genomic features | Rogers et al. [42] |
| CScape-somatic | Similar to CScape except distinguishes rare from recurrent somatic SNVs using cancer data only. | Rogers et al. [43] |
| FATHMM-cancer | Using evolutionary data, a predecessor to CScape. | Shihab et al. [44] |
| FunSeq2 | Scoring scheme, using conservation, regulatory and other measures. Prioritizes cancer somatic variants, especially for regulatory noncoding mutations. | Fu et al. [45] |
| CanDrA | Support Vector Machine method using 10 published predictors (CHASM, SIFT and others) and evolutionary, structural and gene features. | Mao et al. [73] |
| TransFIC | Scoring method utlilizing SIFT, Polyphen2 and MutationAssessor | Gonzalez-Perez [47] |