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Hi, With the latest version of gatk 4.6.0 and the latest funcotator v1.8 annotation, all Clinvar fields are returning blank, even though there are many variants that I know are in clinvar. Seems like …
gevro updated
2 weeks ago
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As discussed with @d0choa and @DSuveges, there is an issue with the target prioritisation engine at least for ClinVar and UniProt where some terms are synonymous with ancestor terms rather than exclus…
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Hi all, thanks for developing this very useful tool.
I have a question on how the clinvar variant significance annotation table is matched to the generated guides. I've attached a subset of my out…
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ClinVar is an external data source that aggregates and curates information about the impacts variants have. Their dataset updates frequently, and the gnomAD browser aims to keep the ClinVar informatio…
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## Background
Currently there are multiple ways in which Variant ID and rsID are represented on the platform. Some examples are:
**1. OT Genetics widget**
![image](https://github.com/user-attac…
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Dear ClinVar API Submitter,
Thank you for using the ClinVar Submission API! We are making changes to the API submission schema to support classifications of somatic variants. The details of the prop…
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Dear Prof. Wang!
I try to update to ANNOVAR, but it gives error:
```
Error: invalid record found in avinputfile: A;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TNFRSF14:8764|TNFRS…
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If the ClinVar significance contains a term `Pathogenic,drug_response`, does gene.iobio remove the non-significance terms (drug_response in this case) so that the displayed term is just `Pathogenic`? …
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For various reasons, I have not been able to get set up with the azureml python package, and instead have been trying to use azcopy. Although I am able to use azcopy to download the md5 file, I hav…
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- Dockerfile
- cloudbuild
- script to deploy cloud run job (e.g. deploy-job.sh from `clinvar-ingest`)
- github action to run the deploy-job.sh on main merges or maybe on releases like `clinvar-inge…