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Table 3 DrGaP pathways analysis

From: Characterization and identification of hidden rare variants in the human genome

MSigDB category

Gene set name

Somatic variant caller

Gene

P-value

RAREVATOR P-value

BP

SYSTEM PROCESS

VarScan

CLCN1

0.0054

0.0051

CM

MODULE 46

VarScan

CR1

0.0009

0.0009

CM

MODULE 75

VarScan

CR1

0.0032

0.0031

REACTOME

IMMUNE SYSTEM

muTect

CR1

0.0103

0.0099

  1. Significantly mutated pathways identified by DrGaP algorithm by using the somatic mutations detected by MuTect and VarScan2 on the uveal melanoma dataset. The table reports the p-value calculated by DrGaP on MuTect and VarScan2 mutations, with and without the RRA variants. Columns report the MSigDB gene set category, the gene set name, the algorithm used for calling somatic variants, the RRA gene that belong to gene set, the DrGaP p-values calculated on the somatic variants (p-value) before and after the addition of the RRA variants detected by RAREVATOR (RAREVATOR P-value).