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  • BAT
    Junior Member
    • Jan 2024
    • 2

    #1

    How can I know if a gene mutation is somatic or germline?



    Hello,

    I'm wondering how one can I know if a gene has a germline or somatic mutation from the data I have.
    ​
  • Nomijill
    Member
    • Sep 2009
    • 25

    #2
    Hi BAT - With the data just as you have it and no additional information, I don't think you can. Is there any way for you to also get information about the allele frequency of the variants you detected? I assume this was somatic tissue. Do you have access to data from blood samples or known normal tissue? Both additional data sources would help, but not be definitive. In the absence of additional data about your samples, you may want to try to annotate your variants, so that you can know if the variant is typically somatic or germ line, but this would require additional software, perhaps with access to the COSMIC database. From github, you can also download applications like, OncoGemini (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7995589/). I hope this is helpful.

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