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**Is your feature request related to a problem? Please describe.**
anyhow:error as a "catch-all" error type is not ideal as it means throwing away the benefit gained from rusts native error handl…
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**Describe the bug**
A clear and concise description of what the bug is.
**To Reproduce**
Insert `HP:5200232` into HPO Terms field in phenotype prioritization before filtering. Click filter observe e…
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**Is your feature request related to a problem? Please describe.**
Currently we have already improved the VarFish release process by having fixed maintenance windows on the Berlin instance. Still the…
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- build mehari transcript DB (ensembl):
- download cdot for ensembl and grch37 / grch38
- download ensembl FASTA for transcripts
- create / fill seqrepo with ENSEMBL FASTAs
- build…
tedil updated
1 month ago
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**Is your feature request related to a problem? Please describe.**
This is an improvement to integrate PEDIA into VarFish.
PEDIA is an approach for prioritization of exome data by facial image a…
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Hi,
I was trying to install VarFish on Ubuntu server 20 but I encounter several issues :
- make jannovar : ssh on localhost due to root permission (solved)
- make postgres : No package matching 'ce…
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**Describe the bug**
Brackets are gone for any protein position. As these are predictions they need to be there according to HGVS nomenclature
**To Reproduce**
Steps to reproduce the behavior:
1…
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**Is your feature request related to a problem? Please describe.**
Currently, mehari does not support multi-allelic sites. This is a big limitation and requires `bcftools norm -m -any --force`.
…
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I have discovered outdated requirements in cubi-tk, which are causing unresolvable conflicts when including cubi-tk as a dependency in other Python projects.
Offending requirements:
- `jsonschem…
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**Is your feature request related to a problem? Please describe.**
The new-style imports (based on depositing files in an external storage and registering the case as phenopackets) is currently unsup…