Table 1 Classification outcomes (prediction and probabilities) for WGS data using the final RF model. The predicted class is determined based on a majority vote from the individual decision trees of the random forest classifier, while the presented probabilities depict the corresponding percentage of decision trees voting toward a functional class
Location (GRCh38) | Allele | Existing variation | SYMBOL | HGVSc | GnomAD AF (%) | Predicted class | Probability of attributed class |
|---|---|---|---|---|---|---|---|
1:97515839-97515839 | C | rs1801159, CM033371, COSV64593269 | DPYD | ENST00000370192.8:c.1627A>G | 18.49% | Normal | 0.96 |
12:21176804-21176804 | G | rs2306283, CM043776, COSV57012766 | SLCO1B1 | ENST00000256958.3:c.388A>G | 53.33% | Normal | 0.66 |
12:21178615-21178615 | C | rs4149056, CM043777, COSV57010105 | SLCO1B1 | ENST00000256958.3:c.521T>C | 11.95% | Decreased | 0.88 |
19:38492540-38492540 | T | rs35364374 | RYR1 | ENST00000359596.8:c.6178G>T | 4.95% | Increased | 0.38 |
19:38499641-38499641 | A | rs762454967, CM140865 | RYR1 | ENST00000359596.8:c.7034G>A | 0.00% | Increased | 0.80 |
19:41006936-41006936 | T | rs3745274, CM130453, CS080663, COSV57843253 | CYP2B6 | ENST00000324071.10:c.516G>T | 28.44% | Decreased | 0.72 |