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  1. UGENE
  2. UGENE-2838

SNP annotation tools (snpEff)

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    Details

    • Type: New Feature
    • Status: Closed
    • Priority: Blocker
    • Resolution: Fixed
    • Affects Version/s: None
    • Fix Version/s: 1.16
    • Component/s: Workflow
    • Labels:
      None
    • Tests Type:
      Functional/Unit
    • Epic Link:
    • Affect Type:
      Userdefined

      Description

      Description: SNP annotation is a step of SNP analysis when each SNP is assigned its characteristics (genome position, genes involved, damaging effect, etc.). snpEff is one of the tools that performs the annotation of SNPs
      Links: http://snpeff.sourceforge.net
      Scope:
      Add a workflow element that will be a part of the variant calling pipeline and that performs the SNP annotation with snpEff. Consider other tools for annotation, for instance (ANNOVAR)

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              Assignee:
              vaskin Yura Vaskin
              Reporter:
              vaskin Yura Vaskin
              Assigned Tester:
              Ivan Protsyuk
              Watchers:
              3 Start watching this issue

                Dates

                Created:
                Updated:
                Resolved: