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Table 4 Gene set enrichment analysis on genes encompassed by CNVs and SNPs

From: Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis

Gene seta

P b

FDR q b

Genes encompassed by BA-CNVs

 Antigen_processing_ubiquitinaination_proteasome_degradation

1.05 × 10−3

0.070

 Signaling_by_the_B_cell_recepceptor_BCR

2.39 × 10−3

0.096

 Class_I_MHC_mediated_antigen_processing_presentation

1.95 × 10−3

0.096

Genes tagged by SNP associations

 IL1R_pathway

1.30 × 10−3

0.16

  1. aIL1R pathway in the listed gene sets are from BIOCARTA database, the others enlisted are from REACTOME; bThe association stats on CNVs and SNPs were obtained from different statistical test as described in methods
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BMC Medical Genomics

ISSN: 1755-8794

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