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Hi,
What is the best approach to annotate all the available variants in the VCF file with exomiser scores?
I am using this yaml configuration for the analysis. However, some of the variants are …
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Build in functionality for parsing the vcf INFO field. When complete, we should specifically pull following info from ExAC:
1. allele count, allele number (observations) as well as AF.
2. Population l…
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exac Api access database down?
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Thank you for providing the nice introductions for installing exac_browser locally. I have successfully installed it recently with minor modifications and displayed our own data along with ExAC popula…
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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
1 month ago
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### Describe the Bug
languages
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Its unable to fetch anything from git. I dont know if its an auth issue or what exacly. But I have been getting an error everytime I have tried to query it about any repo.
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Dear Team,
We installed phenopolis to our HPC and tried to use run_VEP.sh and postprocess_VEP_json.py scripts prior to import json to mongodb.
run_VEP.sh script is pointing to server. Could you …
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A table/structure with locations for common annotations should be kept to make it easy to keep compatibility with common annotation programs w/o having to mod the code.
E.g.
frequency.EXaC
{
VC…