JG and DX performed proteomic data annotations, data interpretation, pathway enrichment and writing of manuscript sections.
Our pathogenicity interpretation pathway predicted 13 different mutations in eight different genes: PRKCG, TTBK2, SETX, SPTBN2, SACS, MRE11, KCNC3 and DARS2 of which nine were novel including one causing a newly described recessive ataxia syndrome.
Note, for the sake of interpretation, 175 pathways passed our gene pathway size filter criteria (min = 15 probes; max = 250 probes).
Although the personalized interpretation of pathways can be demanding, most current pathway analyses have been developed to investigate deregulated pathways between two phenotype groups.
Beyond facilitating the interpretation of pathways in a gene-oriented manner, the approach also assigns unique identifiers to nodes, enabling merging graphs from different pathways.
Even so, most studies of anti-inflammatory agents have used a single agonist and for that matter, a single anti-inflammatory agent, thereby locking down data interpretation on pathways solicited by that particular agonist only.
Because biological interpretation of pathways is more straightforward, we report only on KEGG results.
Trypsin digested proteins were analysed using quantitative label-free proteomics approach followed by data interpretation and pathways analysis.
To advance more on a mechanistic interpretation of pathway activation, a new context-specific metric termed a Pathway Deregulation Score (PDS) has been set forward [ 23].
This is important for readability and interpretation of pathway biology.
