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. Author manuscript; available in PMC: 2019 Sep 15.
Published in final edited form as: Hum Mutat. 2019 Jul 3;40(9):1321–1329. doi: 10.1002/humu.23824

Table 1.

Method performance summary

Method# Method Known
variants/genes
used
Function
effect
Accuracy Precision Recall MCC
1.1 GRS Heit et al. (3 loci) No 37.9% 100.0% 3.0% 0.105
1.2 GRS Heit et al. and PROS1 variants No 47.6% 68.8% 33.3% 0.065
1.3 GRS+warfarin dose Heit et al. and PROS1 variants No 50.5% 89.5% 25.8% 0.252
2 Kmodes clustering Level 1, 2 genes No 52.4% 62.3% 65.2% 0.052
3 Kmeans clustering Level 1, 2, 3 genes variant-level 62.1% 70.8% 69.7% 0.182
4 Kmeans clustering Level 1, 2, 3 genes protein-level 58.3% 65.8% 72.7% 0.054

Overall accuracy (Eqn. 3), precision and recall (Eqn. 4), and MCC (Eqn. 5). Default cutoff of 0.5 was used for calling an exome VTE or non-VTE. The best performance among four methods is indicated in bold.