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Missing annotation in V2 seqvars results #2041

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holtgrewe opened this issue Oct 22, 2024 · 0 comments · Fixed by #2048
Closed

Missing annotation in V2 seqvars results #2041

holtgrewe opened this issue Oct 22, 2024 · 0 comments · Fixed by #2048
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enhancement New feature or request

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@holtgrewe
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holtgrewe commented Oct 22, 2024

Is your feature request related to a problem? Please describe.
While we have a lot of annotations already, we are missing some. Here is a batch that we need.

Describe the solution you'd like
Implement the following annotations:

  • variant location
    • intron or exon
    • intron/exon rank
    • total number of exons/introns
  • scores
    • REVEL
    • MMSplice
    • ClinGen curation SOP lists SIFT, PolyPhen2-HDIV, PolyPhen2-HVAR, LRT, FATHMM, PROVEAN, MetSVM, MetLR, CADD, FATHMM-MKL, fitCons

Describe alternatives you've considered
A clear and concise description of any alternative solutions or features you've considered.

Additional context
Add any other context or screenshots about the feature request here.

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