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+--- Thread: Any user friendly way to find rare mutations in whole genome raw? (/thread-8660.html)
Any user friendly way to find rare mutations in whole genome raw? - Serbin231 - 01-08-2020
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: https://docs.google.com/document/d/1EkRMuD6J0-zyMY3MegKhz7Th0hzhzVXg6DWg2Hm6l2Y/edit?usp=sharing (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)