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Add reVUE to MAF annotation #6

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leexgh opened this issue Jul 3, 2023 · 1 comment
Open

Add reVUE to MAF annotation #6

leexgh opened this issue Jul 3, 2023 · 1 comment

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@leexgh
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leexgh commented Jul 3, 2023

Add reVUE to the genome nexus annotation pipeline.
Problems: Users may not know the AA change and variant classification has been changed by reVUE, so we need to indicate in maf that particular variants annotation has been overwritten.
We also need to make sure reVUE information is:

  • easy to read or parse
  • fit into MAF (e.g. how to add reVUE description column in MAF)
  • no duplicated columns (ReVUE_Revised_Protein_Change=AA_Change, ReVUE_Revised_Variant_Classification=Variant_Classification, these two columns are already existed)
  • can tell people the overwritten fields are AA change and variant classification

Option1: Add all information into single cell

image

Option2: Add to multiple cells

image
@inodb
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inodb commented Jul 6, 2023

Add VEP original protein change and variant classification

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