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Implement PP5 and BP6 criteria #79

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gromdimon opened this issue Apr 26, 2024 · 1 comment · Fixed by #114
Closed
2 tasks

Implement PP5 and BP6 criteria #79

gromdimon opened this issue Apr 26, 2024 · 1 comment · Fixed by #114
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enhancement New feature or request
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@gromdimon
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Is your feature request related to a problem? Please describe.
Implement PP5 and BP6 criteria. However, it seems, that this criteria were depricated.

Describe the solution you'd like

  • Investigate
  • Make a plan

Describe alternatives you've considered
N/A

Additional context

Intervar

PP5 and BP6 by Automated Scoring
If a reputable source has already reported a variant as pathogenic but the evidence is not provided for independent evaluation, then PP5 will be applied. When a reputable source has already reported a benign variant but without detailed evidence, then BP6 will be applied. In InterVar, we used the ClinVar dataset (subject to the same data-cleaning procedure described above) to perform this analysis by default, but users can select to use HGMD or other proprietary databases for this analysis.

@gromdimon gromdimon added the enhancement New feature or request label Apr 26, 2024
@gromdimon gromdimon added this to the 0.1.0 milestone Apr 26, 2024
@gromdimon gromdimon self-assigned this Apr 26, 2024
@gromdimon
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These criteria were excluded!

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