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. Author manuscript; available in PMC: 2022 Apr 28.
Published in final edited form as: Nat Genet. 2021 Oct 28;53(11):1527–1533. doi: 10.1038/s41588-021-00945-5

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