Table 1.
Summary of variations in the ENTPRISE-X training and testing data sets.
Table 2.
Performance on the VEST-indel test set for frameshift variations.
Fig 1.
Receiver operating characteristic curves of ENTPRISE-X, VEST-indel and DDIG-in.
Fig 2.
False discovery rate by the ENTPRISE-X and VEST-indel methods at various cutoffs on the VEST-indel test set.
Table 3.
Ten-fold cross-validation of ENTPRISE-X on the whole training seta.
Table 4.
Comparison of the percentage of disease causing variations in the ExAC seta.
Fig 3.
Distribution of ENTPRISE-X scores for the neutral variations in the VEST-indel test set.
The area under the curve is normalized to one.
Fig 4.
P-value derived from the VEST-indel test set by fitting to an extreme value distribution versus ENTPRISE-X score cutoffs.
Table 5.
Summary of patient annotations using ENTPRISE-Xa.
Fig 5.
Dependence of average false discovery rate of ENTPRISE-X for 13 human exomes on score cutoffs.