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  • mlafave
    Junior Member
    • Feb 2012
    • 5

    #1

    Genome annotation program/script?

    Hi, all - I'm looking for a way to annotate a list of positions in a genome. Basically, I have a list of positions that looks like this:

    chr1 3026294
    chr1 30175158
    chr2 17717521

    ...and so on. I want to know:
    1) the names of the gene(s) (if any) that overlap that position
    2) the orientation of those genes, and
    3) which part of the gene the listed position is (5' UTR, second exon, fourth intron, etc.).

    I feel like someone must have made something to do this before, but I don't know where to look. Any ideas? Thanks!
  • colindaven
    Senior Member
    • Oct 2008
    • 417

    #2
    Try Bedtools.

    You'll need an annotation of course.

    Galaxy is also good - see the interval functions there.

    Comment

    • adaptivegenome
      Super Moderator
      • Nov 2009
      • 436

      #3
      snpEff is good to, very simple to use

      Comment

      • ishmael
        Member
        • Jul 2008
        • 17

        #4

        I would suggest diffReps. There is a script named region_analysis.pl.
        It could read bed format files and generate annotated files fitting most your demands.
        The output looks like:
        Chrom Start End GName TName Strand TSS TES Feature D2TSS
        chr1 2986341 2986690 Ust NM_001108458 - 2868195 3158231 Genebody 171715.5

        Refseq and ensembl annotation surpported, but only human, mouse, rat genomes available now.

        Comment

        • adamyao
          Member
          • Feb 2011
          • 18

          #5
          You can try VarioWatch (http://genepipe.ncgm.sinica.edu.tw/variowatch/main.do). It should be able to provide what you want with graphical output in real time. By using "Query by Bacth" can give you results for multiple positions. If you have thousands of positions to query then you can use MegaQuery.

          VarioWatch only supports human genome.

          Comment

          • mlafave
            Junior Member
            • Feb 2012
            • 5

            #6
            Thanks for your help, everyone!

            Comment

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