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Fig 1.

META-GSA: a tool for meta-analysis based on GSAs for GWASs.

Genome-wide association study (GWAS); gene-set analysis (GSA); meta-analysis of GSAs (META-GSA); gene set of interest (GS, containing genes 3,5,…); complementary gene set (GS’, containing genes 1, 2, 4,…); gene-level statistic of gene g and study s (Γg,s); “enrichment score” (ES) as test statistic for GSA in study s.

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Fig 1 Expand

Table 1.

Notation.

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Table 1 Expand

Table 2.

Power of META-GSA, pooledGWAS-GSA and SPP across all studies, based on 100 genes with 1 marker each.

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Table 2 Expand

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Fig 2.

Correlation of pMETA-GSA and pSPP in scenario no. 1.

The numbers of simulations out of a total of 500 are depicted. Gene sets are classified as significant (p ≤ 0.05) or not significant using SPP and META-GSA.

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Fig 2 Expand

Table 3.

Comparing the number of significant findings of META-GSA with SPP in selected scenarios.

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Table 3 Expand

Fig 3.

Correlation of pMETA-GSA and pSPP in scenario no. 8.

The numbers of simulations out of a total of 500 are depicted. Gene sets are classified as significant (p ≤ 0.05) or not significant using SPP and META-GSA.

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Fig 3 Expand

Table 4.

META-GSA vs. SPP: Number of nominally significant gene sets by GSA methods.

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Table 4 Expand

Table 5.

Rank correlation of p-values comparing GSA methods (best SNP approach).

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