Table 1. Classification performance for feature groups.
Performance characteristics of the full model are shown at the top, and analyses for individual groups of features are shown in sections below. Counts are shown for true positives (TP), false positives (FP), true negatives (TN), and false negatives (FN). *Mean distance aggregates across all the variants in the credible set and weighs by their posterior probability.
Features | Average precision | AUC | Precision | Recall | TP | FP | TN | FN | Sensitivity | Specificity | FDR | GSP count | GSN count |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Full model | 0.65 | 0.93 | 0.73 | 0.53 | 236 | 86 | 6,429 | 209 | 0.53 | 0.99 | 0.27 | 445 | 6,515 |
Naïve closest gene classification | |||||||||||||
Closest footprint | 0.37 | 0.79 | 0.56 | 0.60 | 268 | 207 | 6,308 | 177 | 0.60 | 0.97 | 0.44 | 445 | 6,515 |
Closest TSS | 0.34 | 0.76 | 0.56 | 0.55 | 246 | 195 | 6,320 | 199 | 0.55 | 0.97 | 0.44 | 445 | 6,515 |
Leave-one-group-in | |||||||||||||
Mean distance* | 0.62 | 0.91 | 0.69 | 0.49 | 219 | 98 | 6,417 | 226 | 0.49 | 0.98 | 0.31 | 445 | 6,515 |
Interaction | 0.26 | 0.79 | 0.55 | 0.05 | 23 | 19 | 6,496 | 422 | 0.05 | 1.00 | 0.45 | 445 | 6,515 |
Molecular QTL | 0.36 | 0.85 | 0.62 | 0.18 | 79 | 49 | 6,466 | 366 | 0.18 | 0.99 | 0.38 | 445 | 6,515 |
Pathogenicity prediction | 0.48 | 0.76 | 0.70 | 0.43 | 191 | 80 | 6,435 | 254 | 0.43 | 0.99 | 0.30 | 445 | 6,515 |
Leave-one-group-out | |||||||||||||
Mean distance* | 0.47 | 0.77 | 0.69 | 0.43 | 191 | 84 | 6,431 | 254 | 0.43 | 0.99 | 0.31 | 445 | 6,515 |
Interaction | 0.65 | 0.93 | 0.73 | 0.53 | 234 | 85 | 6,430 | 211 | 0.53 | 0.99 | 0.27 | 445 | 6,515 |
Molecular QTL | 0.65 | 0.93 | 0.74 | 0.54 | 239 | 86 | 6,429 | 206 | 0.54 | 0.99 | 0.26 | 445 | 6,515 |
Pathogenicity prediction | 0.63 | 0.92 | 0.71 | 0.50 | 222 | 91 | 6,424 | 223 | 0.50 | 0.99 | 0.29 | 445 | 6,515 |