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  1. Jalview
  2. JAL-2835

Support visualisation of VEP (variant effect predictor) data

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    Details

    • Type: Improvement
    • Status: Closed
    • Priority: Major
    • Resolution: Fixed
    • Affects Version/s: None
    • Fix Version/s: 2.11.0
    • Component/s: None
    • Labels:
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      Description

      Extend 'load VCF' capability to also give drill down into the sub-fields of VEP data if present in the VCF file.
      For example, gnomAD VCF data set comes with VEP data - delimited sub-fields of the VCF field identified as CSQ.
      We want to be able to do analyse by these sub-fields in the same way as we can by the top level VCF fields, in particular:
      - filter on field values e.g. CSQ.PolyPhen Contains "damaging"
      - colour by field values e.g. CSQ.SIFT

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              Assignee:
              gmungoc Mungo Carstairs
              Reporter:
              gmungoc Mungo Carstairs
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