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Implement ACMG rating of sequence/small variants #54

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holtgrewe opened this issue Sep 8, 2023 · 0 comments · Fixed by #60
Closed

Implement ACMG rating of sequence/small variants #54

holtgrewe opened this issue Sep 8, 2023 · 0 comments · Fixed by #60
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@gromdimon
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enhancement New feature or request

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@holtgrewe
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Is your feature request related to a problem? Please describe.
ACMG assessment of variants is a useful feature, in particular when fields can be auto-filled.

Describe the solution you'd like
Implement an ACMG assesment tool that allows to incorporate the background information that we have.

Describe alternatives you've considered
N/A

Additional context
N/A
@holtgrewe holtgrewe added the enhancement New feature or request label Sep 8, 2023
@gromdimon gromdimon self-assigned this Sep 12, 2023
@gromdimon gromdimon linked a pull request Sep 13, 2023 that will close this issue
feat: ACMG rating of sequence/small variants (#54) #60
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gromdimon added a commit that referenced this issue Sep 13, 2023
@gromdimon
feat: ACMG rating of sequence/small variants (#54) (#60)
83540c2
@varfish-bot varfish-bot mentioned this issue Sep 13, 2023
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feat: ACMG rating of sequence/small variants (#54) bihealth/reev
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@holtgrewe @gromdimon