Table 3.
Sensitivity | Specificity | Balanced accuracy | |
---|---|---|---|
In‐frame cross validation | 0.90 | 0.90 | 0.90 |
In‐frame testing | 0.80 | 0.85 | 0.82 |
Frameshift cross validation | 0.83 | 0.88 | 0.85 |
Frameshift testing | 0.89 | 0.86 | 0.87 |
Training utilized 10‐fold cross validation and pathogenic variants from Human Gene Mutation Database 2014.3 and benign examples from Exome Sequencing Project (minor allele frequency in African Ancestry ≥ 0.01). The test set consisted of pathogenic examples from ClinVar and benign examples derived from pairwise genome alignments of human and cow, dog, horse, chimp, rhesus macaque, and rat.