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This includes the ability for the VCI to automatically update any previous ClinVar submitted Variant Interpretations with the ClinVar SCV id and url as soon as the data is published in ClinVar. This w…
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Given an RDD of Association objects, trying to add annotations from the ClinVar database providing biological context for these variations.
Annotations will include information about how variant ma…
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Hi I try to run filter_vep but I got an error
my command is :
```
cd NAS/InfoGene/Rachele/data/VEP_output/
mkdir -p filtered_for_predpathogenic
for chr in {1..22}; do
filter_vep …
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### Description of feature
Currently the workflow uses the VEP cache for annotation, but should also enable using local files from databases for annotation. Hence, other database sources can be added…
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Address the validation mentioned for ClinVar entries in #759.
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Make sure that all of the artifacts that currently point to stage are re-pointed to the prod BQ tables.
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On a recent deploy of the `genegraph-clinvar` deployment, the ingest halted at topic offset 25192, around halfway through the topic `clinvar-combined_20210302`. From the log it appears immediately aft…
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### What you did:
I was checking a variant in Clinvar Variants section of gnomAD v4.
HGVS consequence shown in ClinVar variants section of gnomAD v4 is different from that of clinvar and gn…
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### Submitter Name
Grace Pendlebury
### Submitter Affiliation
Shariant / Australian Genomics
### Submitter Github Handle
_No response_
### Additional Submitter Details
Shariant is…
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As a user, I would like to be able to sort the Clinvar widget data by `review status` and `clinical significance`.
At the moment, the ClinVar widget is not sortable by any of the columns/fields.
Als…