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Helpful to have in:
https://github.com/NCATS-Tangerine/cq-notebooks/tree/master/Orange_QB1_Benchmark_CQs/QB1.2_FA_Gene_Pathogenic_Variants
@TomConlin and @mbrush
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I ran this and got: **Error in check.dataset(dataset, "") : dataset : sample size N not set**. I am not sure what I am doing wrong here. I do use the correct value of token retrieved from LDlink site.…
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Hi,
I have sequenced a single gene using naopore minion sequencer, aligned the reference genome, and I now want to call variants. I have some SNP genotypes for my target gene which I am going to us…
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I don't know if we have ever spoke about this, but I was wondering what we should do with the HGVS expression entry for these variants. I couldn't find any resource in the HGVS guidelines for these ty…
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**Background**:
* cBioPortal: [cBioPortal](https://github.com/cBioPortal/GSoC/issues/www.cbioportal.org) is an open-source platform for cancer genomics data analysis and visualization. It provides a…
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HOME [tab] > Explore genomic data through the Viewer [heading] > View genome [button] > Variants [channel] > [cog button] > [channel configuration]
The same happens when selecting the "Gene Identifie…
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Dear all,
A Spanish coder suggests the inclusion of Yao syndrome on Orphanet.
"Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swel…
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Currently multiple users have experienced the find second hit functionality to time out on any variant.
Steps to reproduce:
1. Use case https://varfish.bihealth.org/variants/f2acceb7-067d-41a4-8…
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People are often interested in gene X. Do we have any patients with interesting variants?
At the moment we can do it using the all variants node, but then you end up having to go through the ~200 var…