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[User Story] Annotated, ranked and Scout compatible SVs #104

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7 of 13 tasks
Tracked by #198
jemten opened this issue May 3, 2024 · 0 comments
Open
7 of 13 tasks
Tracked by #198

[User Story] Annotated, ranked and Scout compatible SVs #104

jemten opened this issue May 3, 2024 · 0 comments
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@jemten
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jemten commented May 3, 2024

Need

As a clinician or researcher, I want SNVs to be annotated, ranked and compatible with Scout.

Suggested approach

Draw upon inspiration from the nf-core/rd pipeline: SVDB annotation --> VEP --> Genmod

Can be closed when

Additional considerations

  • Sniffles2 multisample is currently used to merge samples and create a SV "database".
@jemten jemten added the enhancement New feature or request label May 3, 2024
@fellen31 fellen31 changed the title Annotate SV from Sniffles2 Annotate SV from Sniffles May 15, 2024
@fellen31 fellen31 added this to the 0.3 milestone May 20, 2024
@fellen31 fellen31 changed the title Annotate SV from Sniffles [User Story] Annotated, ranked and Scout compatible SNVs Jun 13, 2024
@fellen31 fellen31 changed the title [User Story] Annotated, ranked and Scout compatible SNVs [User Story] Annotated, ranked and Scout compatible SVs Jun 13, 2024
@fellen31 fellen31 added needs refinement This issue needs refinement user story a user story describing new functionality and removed enhancement New feature or request labels Jun 13, 2024
@fellen31 fellen31 added Gain L Gain Large Effort L Effort Large labels Jun 16, 2024
@fellen31 fellen31 modified the milestones: 0.3, 0.4 Jun 25, 2024
@fellen31 fellen31 removed the needs refinement This issue needs refinement label Jul 26, 2024
@fellen31 fellen31 added the Urgency M Urgency Medium label Aug 27, 2024
@fellen31 fellen31 self-assigned this Oct 4, 2024
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