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Entrez sometimes moves genes to a different/new entrez ID: E.g. SMIM44 (entrez ID 122152363) has been replaced with entrez ID 122405565. We currently have both in the database but they should probably…
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Hi,
I am trying to run mtdna server by installing it offline, however i am using nextflow first time. i am able to install the process but encountered with the error:
ERROR ~ Unable to parse con…
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I am trying to use the beta functions
but facing this error (log below), any ideas how to pr…
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**Is your feature request related to a problem in the current program to new available techology or software? Please describe and add links/citations if appropriate.**
Our local geneticists are loo…
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In a recent case a known duplication was estimated as being 1000 basepair shorter than previously called. This resulted in annotsv missmatch to dbvar and gnomad which caused the variant to loose 6 poi…
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I created a mapped hdfs table:
```
CREATE TABLE variants_hdfs_c1 (
ref String, alt String,pos UInt32,
effs Array(Tuple(
codon_change String,
amino_acid_change S…
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When displaying Clinvar variants, if you click a gene card again (same gene or another gene) it reverts back to counts, not variants. Once counts (or variants) is set, we probably want to keep it at t…
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I've just done a code complexity check using [Radon](https://pypi.org/project/radon/). It's the same software also used by codefactor to find the complex functions that need fixing. The result of the …
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Clinical Significance - current clinical significance does not adequately support the needs for somatic variant information.
- Current set of values defined by LOINC
-CHD1 (2 variants found)
-CHD8 (18 variants fo…