Identifying Mendelian disease genes with the Variant Effect Scoring Tool

BMC Genomics

Table 6 Mendelian disease gene detection under locus heterogeneity.

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

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.

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