Any user friendly way to find rare mutations in whole genome raw?

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)

Hi @Sakura9,

Welcome to the :qiime2: forum!

Right now, QIIME 2 is primarily a microbiome-associated :microbe::petri_dish: software package with a heavy emphasis on marker gene sequencing. While this and whole human exome sequencing are both bioinformatic approaches, they’re very different in terms of the approach and basic assumptions. My suggestion would be to find a human genetics forum since they may be better able ot help you.


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