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Figure 1 | BMC Proceedings

Figure 1

From: Enrichment analysis of genetic association in genes and pathways by aggregating signals from both rare and common variants

Figure 1

Power of two types of gene set enrichment tests in step 2 Gene set enrichment analysis aggregates the results of gene-based tests for a group of genes. We tested the 13 genes contributing to the Q2 phenotype and used the genes for the Q1 phenotype as a negative reference. Noise was introduced to the Q2 genes by adding 5, 10, 15, and 20 genes. Also, in the last two gene sets part of the true signals was ignored by randomly excluding 5 or 10 risk genes. Power is shown for two types of enrichment tests: GSEA (without adjusting the gene-level test scores) and VSEA (gene scores adjusted). Tests were performed before (dashed lines) and after (solid lines) excluding spurious genes. These gene set tests were based on four gene-level tests (CMC-1, CMC-count, WeightSum1, and WeightSum2).

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BMC Proceedings

ISSN: 1753-6561

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