Is there any user friendly way to find rare mutations in the individual human whole genome sequencing raw data? (from Dante, 30x coverage).
To be more specific, I want to find mutations from this paper:
(it’s very short, less than one page).
But I’m confused. In their paper they just talk about genes (RAD21, B3GAT2, SMC3, SCN11A , SCN5A, SCN9A, SCN10A, SCN11A, TRPA1), but not mutations? Can we find thats diseased-mutations which they talking about in genes, which their list? Or is there not enough data in the paper/study for this?
And if there is not enough data, which data I need to request from authors?
Or those genes have kind a “gold standard sequences” and if that sequence different from standard - there is “diseased” gene?
(I have only very basic genetics and bioinformatics knowledges)