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Table 1 Type I error rates across the five approaches for the 500 null sets and the 500 nonspurious gene sets

From: Evaluating methods for combining rare variant data in pathway-based tests of genetic association

Pathway method

Across 500 null sets

Across 500 nonspurious gene sets

 

Nominal α = 0.05

Nominal α = 0.005

Nominal α = 0.05

Nominal α = 0.005

No gene-level aggregation

    

WS

0.492

0.190

0.043

0.004

CMC

0.232

0.054

0.037

0.003

Gene-level aggregation

    

WS-GSEA

0.048

0.004

0.001

0.000

WS-KS

0.040

0.003

0.000

0.000

WS-Fisher

0.429

0.244

0.010

0.004

CMC-GSEA

0.063

0.007

0.002

0.000

CMC-KS

0.044

0.004

0.004

0.000

CMC-Fisher

0.484

0.235

0.048

0.006

  1. WS, weighted sum; CMC, combined multivariate collapsing; GSEA, gene set enrichment analysis; KS, Kolmogorov-Smirnov test; Fisher, Fisher’s combined probability test.