varfish-server

varfish-server copied to clipboard

Gene panel feature

1

**Is your feature request related to a problem? Please describe.** Gene panel feature is currently hidden and not project/category specific. Documentation is not according die Panel Guidelines (e.g. Transkripts) **Describe...

einicke

**Describe the bug** Although "Pathogenicity Prioritization ->Enable variant pathogenicity-based prioritization" is activated, which should lead to a calculation of CADD scores for, no CADD scores for InDels are shown in...

flokraft85

show flags from other cases for previously annotated variants in variant result table

1

**Is your feature request related to a problem? Please describe.** Currently the variant result table does not show previously annotated flags from other cases. **Describe the solution you'd like** If...

xiamaz

The selection for quick presets in the case details show all presets among all projects available. This should be limited to only those available to the current project.

stolpeo

Provide ACMG classification support for SVs/CNVs

3

**Is your feature request related to a problem? Please describe.** There are ACMG classifications for CNVs. VarFish does not provide support for them. **Describe the solution you'd like** Implement support...

holtgrewe

QC values thresholds should be adjustable

1

**Is your feature request related to a problem? Please describe.** It would be good, if the user can adjust the thresholds for the QC metrics (eg Coverage, % Duplicates, Ts/Tv),...

flokraft85

Allow integration of repeat expansions

2

**Is your feature request related to a problem? Please describe.** We currently cannot properly include repeat expansion, e.g., as called by expansion hunter. **Describe the solution you'd like** Integrate expansion...

holtgrewe

When a query can't be created, the error response from the server is not descriptive (i.e. just a 500er). Also the logs don't tell anything. This needs to be improved....

stolpeo

Combining Query Results

2

**Is your feature request related to a problem? Please describe.** It would be great to be able to combine query results to quickly prioritise the most promising variants, regardless of...

einicke

**Is your feature request related to a problem? Please describe.** For a fast visual inspection of SV in the IGV viewer it would be helpful to use different colors für...

flokraft85