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 that 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)

  • 3
    $\begingroup$ Cross-posted: biostars.org/p/415417 $\endgroup$
    – user3051
    Commented Jan 8, 2020 at 8:57
  • 1
    $\begingroup$ @ATpoint do you have a script set up to systematically find when users cross-post to BioStar or Reddit? (Just wondering how common this trend is) $\endgroup$ Commented Jan 8, 2020 at 10:08
  • $\begingroup$ No, there is no system to it. Purely by chance that a title that looks familiar catches the eye. I would not say it is a trend and only happens occasionally. This toplevel question is also at reddit.com/r/bioinformatics/comments/elivcf/… $\endgroup$
    – user3051
    Commented Jan 8, 2020 at 11:36
  • $\begingroup$ That isn't a paper, it's just an abstract. You can read the actual paper here: doi.org/10.1016/S0016-5085(17)30765-5 but it isn't available for free. Presumably, the paper will give the actual variants found. $\endgroup$
    – terdon
    Commented Jan 8, 2020 at 12:49

1 Answer 1


You need to run a SNP finding pipeline, filter for SNPs in those genes and then run a SNP annotation pipeline. (You could annotate before you filter but it will take longer).

SNP finding usually has three steps, 1) read alignment to reference, 2) SNP calling and 3) SNP filtering (by quality).

You then bring in gene annotation data to filter SNPs to just those genes.

You then run SNP annotation using tools like VEP, SIFT, PolyPhen, etc.

People use tools like GATK to do this.

Hopefully that's enough information to get you started.


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