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Table 6 Mendelian disease gene detection under locus heterogeneity.

From: Identifying Mendelian disease genes with the Variant Effect Scoring Tool

MYH3 mutation VEST scores Fisher Rank (MYH3) Stouffer Rank (MYH3) Fisher Rank (DHODH) Stouffer Rank (DHODH)
0.045, 0.993 5 6 8 3
0.045, 0.963 144 710 7 3
0.045, 0.963 142 695 7 3
DHODH mutation VEST scores Fisher Rank (MYH3) Stouffer Rank (MYH3) Fisher Rank (DHODH) Stouffer Rank (DHODH)
0.33, 0.98, 0.859 26 27 3 3
0.33, 0.952, 0.523 53 118 3 3
0.33, 0.98, 0.859 26 27 4 3
0.33, 0.636 582 554 3 3
  1. Gene ranks for DHODH and MYH3 using the Fisher and Stouffer gene score methods when Freeman Sheldon syndrome exomes and Miller syndrome exomes are combined as one versus all. The top half of the table shows the results of combining individual Freeman Sheldon exomes with all four Miller syndrome exomes, while the bottom half shows the results of combining each Miller syndrome exome with all three Freeman Sheldon syndrome exomes. The first column reports VEST scores for missense mutations in the causal gene in the single exome.