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  • sam_kh918
    Junior Member
    • Oct 2014
    • 2

    #1

    Brief gene function annotations

    Hello,

    After running the sequencing reads through an exome sequencing pipeline, followed by ANNOVAR annotation, I have written a Python script that extracts the relevant info from the ANNOVAR output into an Excel sheet. I usually end up with a list of 20-40 genes for each category (e.g. splicing, nonsynonymous_SNV, frameshift_insertion, etc.).

    It would be useful to have an additional column next to the gene names with a one sentence description of their function. It seems ANNOVAR itself doesn't provide such annotation so I was wondering what's the best way for obtaining this info.

    I am thinking of writing a script to parse the HTML source file of sites such as GeneOntology or OMIM but want to see if this has already been done, for example if there are text files available with this information for download.

    Thanks in advance for your help.

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