varfish-server
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VarFish: comprehensive DNA variant analysis for diagnostics and research
:robot: I have created a release *beep* *boop* --- ## 0.1.0 (2024-05-16) ### Features * adapt filter frontend to case detail variant annotations ([#1104](https://github.com/varfish-org/varfish-server/issues/1104)) ([#1122](https://github.com/varfish-org/varfish-server/issues/1122)) ([ed0652a](https://github.com/varfish-org/varfish-server/commit/ed0652a32840e050f121ecf46160efca7f796e60)) * add a flag...
**Is your feature request related to a problem? Please describe.** The `geneinfo` app isn't used much anymore, expect for resolving gene panels. This can be done with a call to...
**Is your feature request related to a problem? Please describe.** I started to remove (or replace by mehari) references to the HGNC table as requested in #1551. However, two references...
**Is your feature request related to a problem? Please describe.** Currently certain settings are set site wide, project wide or per user. This is often an issue, as in different...
**Describe the bug** As QC feature VarFish compare the sex of the ped file with the het. call ratio on chromosome X. Althoug males and females are cluster on the...
**Is your feature request related to a problem? Please describe.** The HGMD Pro link-out can be enabled in the configuration and configured with a custom URL, but this is never...
**Is your feature request related to a problem? Please describe.** We need latest ClinVar database dumps. It needs to be recorded on which version **Describe the solution you'd like** Get...
**Describe the bug** The precomputed scores and SpliceAI score that are shown in the result list are not shown in the variant details, only "prediction not available".
**Describe the bug** When I removed hgmd and dbnsp filter settings as requested in #739 I noticed that the settings are stuck to previous query settings and the only solution...
**Describe the bug** The IVG view on the variant details page for SV (GRCh38) shows the whole genome (chr1-22, X and Y) instead showing the region, where the SV is...