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Optimize PP3 and BP4 VCEPs #197

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gromdimon opened this issue Sep 5, 2024 · 0 comments
Open

Optimize PP3 and BP4 VCEPs #197

gromdimon opened this issue Sep 5, 2024 · 0 comments
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enhancement New feature or request internal Internal change

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@gromdimon
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gromdimon commented Sep 5, 2024

Is your feature request related to a problem? Please describe.
We have suboptimal implementation of PP3 and BP4 VCEPs.

Describe the solution you'd like
Optimize the implementation:

  • Combine methods such as _is_splice_variant _is_inframe_indel, _is_missense_variant, _is_synonymous_variant, _is_intron_variant, _is_utr_variant. They all share same logic, so they can be combined in 1 supermethod with additional parameter(s).
  • Improve _affect_spliceAI method by providing one threshold for all spliceAI scores. This threshold is the "delta" score of spliceAI. Change it also in AutoBP7._spliceai_impact and AutoPS1PM5._affect_splicing.
  • Change the VCEPs as needed.
  • Update unit tests

Describe alternatives you've considered
N/A

Additional context
N/A

@gromdimon gromdimon added the enhancement New feature or request label Sep 5, 2024
@gromdimon gromdimon added this to the 0.2.0 milestone Sep 5, 2024
@gromdimon gromdimon self-assigned this Sep 5, 2024
@gromdimon gromdimon removed this from the 0.2.0 milestone Sep 11, 2024
@gromdimon gromdimon removed their assignment Sep 11, 2024
@gromdimon gromdimon added the internal Internal change label Sep 11, 2024
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Labels
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