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  • Variation analysis - tool recommendation

    Hi all,
    I need to analyze some variation I detected using GATK's UnifiedGenotyper.
    (if this is of any relevance, I am using hg19 as reference)
    So, basically I have this .vcf file and I want to screen out variation that aren't in any known genes for starters. after doing my share of reading I stumbled upon ANNOVAR, BEAGLE, SIFT, VariantClassifier and more.
    does anyone have a favorite of his own? or maybe can recommend a method for achieving what I'm after?

    Thanks to all the helpers
    Moty

  • #2
    Originally posted by moty View Post
    Hi all,
    I need to analyze some variation I detected using GATK's UnifiedGenotyper.
    (if this is of any relevance, I am using hg19 as reference)
    So, basically I have this .vcf file and I want to screen out variation that aren't in any known genes for starters. after doing my share of reading I stumbled upon ANNOVAR, BEAGLE, SIFT, VariantClassifier and more.
    does anyone have a favorite of his own? or maybe can recommend a method for achieving what I'm after?

    Thanks to all the helpers
    Moty
    I like the ENSEMBL VEP:



    not least because it wraps up functional and positional annotations into a single interface, but it has web based and API based access, and a handy Perl script to do the heavy lifting if you so desire.

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    • #3
      Does VEP require online access or can it be run locally?

      I am behind a firewall and it does not always give me access to everything.

      Comment


      • #4
        Originally posted by NGSfan View Post
        Does VEP require online access or can it be run locally?

        I am behind a firewall and it does not always give me access to everything.
        We run a local installation, mirroring the required parts of Ensembl.

        Comment


        • #5
          You can install the EnsEMBL database on a local Linux machine and get the API to see that, but am not sure if the VEP can be made to work on a local machine. The best place to ask is the mailing list:



          Chris

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          • #6
            Thanks Bukowski and cjp for the information and suggestions. I am using ANNOVAR and I'm really quite happy with it, but have always been curious about the VEP. I just hesitate because I get the impression that there is a lot of overhead in using the VEP compared to ANNOVAR if one wants to run it locally.

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