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Reimplement PP2 to use missense z score #183

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gromdimon opened this issue Aug 28, 2024 · 1 comment · Fixed by #207
Closed

Reimplement PP2 to use missense z score #183

gromdimon opened this issue Aug 28, 2024 · 1 comment · Fixed by #207
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@gromdimon
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enhancement New feature or request
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0.2.0

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@gromdimon
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Is your feature request related to a problem? Please describe.
For the ration of pathogenic variants the special z-score can be used.

Describe the solution you'd like
Research where to get this score

Describe alternatives you've considered
N/A

Additional context
N/A
@gromdimon gromdimon added the enhancement New feature or request label Aug 28, 2024
@gromdimon gromdimon self-assigned this Aug 28, 2024
@gromdimon
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The misZ score can be found in this endpoint:
https://reev.cubi.bihealth.org/internal/proxy/annonars/genes/info?hgnc_id=HGNC:393

@gromdimon gromdimon added this to the 0.2.0 milestone Aug 30, 2024
@gromdimon gromdimon mentioned this issue Sep 10, 2024
Merged
@gromdimon gromdimon linked a pull request Sep 10, 2024 that will close this issue
Add misZ score evaluation for PP2 and BP1 #207
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enhancement New feature or request
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Add misZ score evaluation for PP2 and BP1 bihealth/auto-acmg
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@gromdimon