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Add VEP annotations to the somatic SNVs #30

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NagaComBio opened this issue May 17, 2024 · 0 comments · May be fixed by #31
Open

Add VEP annotations to the somatic SNVs #30

NagaComBio opened this issue May 17, 2024 · 0 comments · May be fixed by #31
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enhancement New feature or request

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NagaComBio commented May 17, 2024

Feature Requirements:

  • Add VEP annotations to the SNV calls.
  • Parse transcripts with "HIGH" or "MODERATE" VEP consequences impact from the INFO column and add them to a new column with Gene, Consequences, Exon/Intron counts, HGVSc and HGVSp information.
  • Still to be decided:
    • Should this be done for all variants?
    • Should the VEP annotation be removed from the INFO column once it is parsed?
@NagaComBio NagaComBio self-assigned this May 17, 2024
@NagaComBio NagaComBio changed the title Add VEP annotations to high confidence somatic SNVs Add VEP annotations to the somatic SNVs May 24, 2024
@NagaComBio NagaComBio linked a pull request May 27, 2024 that will close this issue
@NagaComBio NagaComBio added the enhancement New feature or request label May 31, 2024
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