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These include direct pathway striosome neurons, indirect pathway striosome neurons, direct pathway matrix neurons and indirect pathway matrix neurons [1].
The three gene sets represented in this comparison included the T-cell differentiation pathway, matrix metalloproteinases and reactive oxygen species.
The pathway matrix of the EPIC-Norfolk GWAS has size 59 327 × 211.
The pathway matrix has entries 1 and 0 indicating whether a SNP belongs to a pathway.
The matrix equals the times the pathway matrix (P) with the contribution of its i th SNP (row) removed.
The first control was to permute the rows of the response variable Y and rerun the regression 500 times for each pathway matrix.
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Both the genotype and pathway matrices include 90 061 SNPs in 4767 genes that are members of the 211 KEGG pathways.
The difference between a SNP BF and a pathway BF is that now the effect of the SNP is removed from both the genotype and pathway matrices.
This control consistently yielded low AUCs for every pathway, indicating that the pathway matrices were not large enough to spuriously fit a random response variable.
It is interesting to note that the independent models that use the pathway matrices P s and P t as features (i.e. Indep-Path) show a slightly worse performance than the Indep.
Here we group genes associated with each of the 3 EMT pathways, and find that two of the pathways (matrix and TGF) are active in IPF myofibroblasts providing the first systems-level indication regarding mechanism.
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