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I just updated to version 112 to make use of the --individual_zyg function, but i'm getting errors triggered when I run it.
My command is:
`./vep --cache --dir_cache /opt/.vep/ --no_stats --che…
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Initial thoughts and proposals outline below, based on info collected in the requirements doc [here](https://docs.google.com/document/d/1J4AqGDEqyK8KAzfiowgHYKJNvzHuwHSHgkN9dleLemY/edit#heading=h.b3a9…
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via @jxchong cc @arq5x
A user may find a variant that is not itself associated with disease, but is in a gene known to be associated with the disease. There is no way to store or query this info in g…
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We currently load ClinVar from separate GRCh37/38 VCFs
We should switch to the XML as it contains more variants and more info.
For analysis performance reasons we probably need it to continue to go …
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Hi! Could you please explain in more detail what these flags are for?
-gxgbin: the bin index to compute the ME effect
-k: number of random vector
-jn: number of jackknife blocks
-annot: annotat…
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Hi, I'm trying to use DeepRank-Mut. The first problem is that I don't get how to run the tests, because in the documentation it is stated to enter in the test directory and run pytest, but this comman…
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Like discussed in last night's GA4GH call, I'd like to propose opening up discussion on how to include ethnicity in phenopackets 2.0.
My impression from the discussion was that simple enumeration o…
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Question from Jessica Hatton about the DICER1 VCEP Variant Tracker and how out of date variants are calculated, see examples below https://docs.google.com/spreadsheets/d/125xxFPtlFeBaYpRDWb4odgGIR7_cB…
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Configuration file: db_main.toml
Description: miRDB is an online database for miRNA target prediction and functional annotations.
```toml
[db_mirdb]
source_url = "http://mirdb.org/download/miRDB…
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**Is your feature request related to a problem? Please describe.**
We have a TODO in `_critical4protein_function` method in `src.seqvar_pvs1`. We need to properly count the pathogenic variants.
**…