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perl vcf2maf.pl --input-vcf /path/to/somaticvariants.vcf --output-maf /path/to/out.maf --tumor-id s_MC7562_tumor --normal-id s_MC7562_germline --vep-path /path/to/vep/94/ --vep-data /path/to/vep91/cac…
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We noticed in the portal on the same protein location, we have different reference AAs.
Here is the link to all KIT samples in MSK portal. [**LINK**](https://cbioportal.mskcc.org/results/mutations?Ac…
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We want to generate a SPARQL query template (which the user will modify to bootstrap) in AutoR2RML and xml2rdf based on the input file structure.
This generic file could even be stored and diff perfo…
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The following three DATS schemas all define "identifier" as having format "uri":
* identifier_info_schema.json
* alternate_identifier_info_schema.json
* related_identifier_info_schema.json
How…
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@YY-SONG0718 to provide details
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Hi!
I used the following command to run the VarGen pipeline but I am getting the following error:
```
> disease_variants disease_annotation
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I tried to figure out how I can change the output to Ensembl identifiers instead of gene symbols.
I tried adding the argument "numeric_ns="ENSG" but that didn't help.
Do you have a hint on how I c…
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Hello, I would like to request if you could create dbSNP154.GRCh38/dbSNP154.GRCh37 or provide guidance to built dbSNP154. GWAS Catalogue uses dbSNP154 version and this could be helpful for help workin…
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Hi Pavankumar,
Thank you for this program, it is nice to have a user friendly program available for completing analyses on RNA-RNA interaction datasets. So far there have been very few programs pro…
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See also #4 for the long discussion on this topic.
I would prefer to use CHEBI:1234 ; simply because then people see where the identifier comes from with more ease. HMDB also includes their databas…