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Hi, I have an issue with the table splitting in coding and non-coding variants.
Within my dataset there are (germline) variants annotated in their consequence with "frameshift_variation" or even "cod…
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I try to apply Downstreamer to my dataset. I couldn't find information regarding the choice of parameter for the permutation number. I selected 100,000 for the main permutation number ; and 100 for th…
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Hi I have a vcf with CNV (copy number variants) generated from CNVnator and I want to annotate it as gene-based. Could you please help me with this?
Thank you
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It would be great to be able to pull `associated condition` information from Entrez via mygene.info.
For example, for BRAF (https://www.ncbi.nlm.nih.gov/gene/673):
Under phenotypes they list con…
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We need to create some mondo subset files for use in KGs along the following lines:
- Rare disease subset
- Rare disease subset with leaf nodes representing variants in same gene rolled up to pare…
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A google group user [reports](https://groups.google.com/g/cbioportal/c/xFRACdC93Vo) that the Mutations tab does not load for the following URL. I have confirmed the issue. Nothing obvious in the bro…
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Request to have the same feature as in MIP/SCOUT where all possibly compound variants are uploaded when looking at one variant. Including VAF-data....
- [x] Display Patient info via AJAX
- [x] Edit Patient Features
##### Venn Diagram (Omim Tab) (`/venn_json`)
- [x] Venn Diagra…