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We should dig into this a little more and how this matching occurred. I feel like something went wrong here but I need more time to determine whether this was due to our coordinates or due to somethin…
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Hi, I've run InterVar on a testing data. The variant below was identified as likely pathogenic:
`chr17 41244106 41244106 C - BRCA1 exonic frameshift deletion clinvar:Pathogenic InterVar: …
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I didn't think this was possible so I just want to suss out if this is an implementation mistake or something happened at the time of submission. In the admin interface the drug field is also empty.
…
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Hello,
I see that LUMPY is coming from the same lab as GEMINI, so I was wondering if there is a workflow for running annotating and filtering variants called by LUMPY.
Ideally, the pipeline would …
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# Context
There are emerging requirements for reusing the `cellxgene-schema CLI`schema+validator for scenarios that are more **relaxed** than CELLxGENE Discover's current requirements.
# Relaxat…
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hi Developer,
I am bioinformatic from illumina in China.
So many dragen-customers(E.g:The First Affiliated Hospital of Zhengzhou University, China Yixueke Xueyuan Hemopathy Hospital) try to use …
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For mutations data it is currently listed as NS (not sequenced) instead of NP (not profiled), but for CNA and SV it shows NP. Not profiled and not sequenced are synonyms. See this [link](https://www.c…
inodb updated
2 months ago
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Hello,
I'm experiencing problems running VARI3 with my GWAS dataset, the following errors are:
```
127087 MB RAM detected; reserving 63543 MB for main workspace.
Allocated 47657 MB successful…
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Hello,
I am using a reference genome of Folsomia candida available via NCBI's datasets for RNA-Seq expression studies. A part of the gene/transcript annotation contains multiple mRNA / CDS annotatio…