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Implement ClinGen HI / TS region annotation #282

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holtgrewe opened this issue Nov 7, 2023 · 0 comments · Fixed by #319
Closed

Implement ClinGen HI / TS region annotation #282

holtgrewe opened this issue Nov 7, 2023 · 0 comments · Fixed by #319
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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.
Haploinsufficiency and triplosensitivity is important genome annotation information. We are lacking this information.

Describe the solution you'd like
Obtain and incorporate information from ClinGen.

Describe alternatives you've considered
N/A

Additional context
N/A
@holtgrewe holtgrewe added the enhancement New feature or request label Nov 7, 2023
@holtgrewe holtgrewe changed the title Implement ClinGen HI / TS genome annotation Implement ClinGen HI / TS region annotation Nov 21, 2023
holtgrewe added a commit that referenced this issue Nov 21, 2023
@holtgrewe
feat: implementing ClinGen region dosage annotation (#282)
c9cb34f
@holtgrewe holtgrewe linked a pull request Nov 21, 2023 that will close this issue
feat: implementing ClinGen region dosage annotation (#282) #319
Merged
holtgrewe added a commit that referenced this issue Nov 21, 2023
@holtgrewe
feat: implementing ClinGen region dosage annotation (#282) (#319)
57e1408
@varfish-bot varfish-bot mentioned this issue Nov 21, 2023
Merged
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feat: implementing ClinGen region dosage annotation (#282) varfish-org/annonars
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@holtgrewe