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  • moty
    Junior Member
    • Nov 2011
    • 8

    #1

    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
  • Bukowski
    Senior Member
    • Jan 2010
    • 388

    #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:

    http://www.ensembl.org/info/docs/variation/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.

    Comment

    • NGSfan
      Senior Member
      • Apr 2009
      • 181

      #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

      • Bukowski
        Senior Member
        • Jan 2010
        • 388

        #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

        • cjp
          Member
          • Jun 2011
          • 58

          #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

          Comment

          • NGSfan
            Senior Member
            • Apr 2009
            • 181

            #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.

            Comment

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