varfish-server

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Carrier screening filter mode

1

**Is your feature request related to a problem? Please describe.** Carrier screening of both parents for compound heterozygous variants is currently not possible (if the index does not carry both...

einicke

Separate Flags per User for variant annotation

1

**Is your feature request related to a problem? Please describe.** Currently flags can be used to track the status of a variant. While this is useful to mark interesting variants....

xiamaz

Separate data from analysis information in cases

2

**Describe the solution you'd like** Currently the following scenarios are not representable in Varfish and this is causing issues in real cases: - data might be **reprocessed** for a sample...

xiamaz

**Describe the bug** The relatedness computation of long read data is technically working but the results show no relatedness where there should be some evidence. ``` { 'het_1_2': 0, 'het_1':...

stolpeo

feat: add optional integration of GestaltMatcher/PEDIA (#399, #1125)

3

holtgrewe

**Is your feature request related to a problem? Please describe.** The SV query result table is missing the option for data export. The small variant query results table already has...

stolpeo

**Is your feature request related to a problem? Please describe.** In bihealth/reev-frontend-lib#160, we introduce better error handling in case of problems with the API. This will lead to quiet failures...

holtgrewe

**Is your feature request related to a problem? Please describe.** Both commands are doing similar things. They should be merged.

stolpeo

**Describe the bug** Flags are stored in the payload of SmallVariantQueryResultRow, but they are never used as the flag information is retrieved by matching the actual flag. Keeping the payload...

stolpeo

**Is your feature request related to a problem? Please describe.** The Gnocchi Score was introduced by Chen et al 2024 in "A genomic mutational constraint map using variation in 76,156...

alexejknaus