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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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Hello,
I have been playing around with the rvtests docker container for a couple of days and things have been running smoothly, thanks for the nice utility!
Yesterday I attempted using a VCF fil…
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Thanks for a great easy to use tool. I've finally reached the step where I would like to do a Gene Centric Noncoding conditional analysis on some select rare variants I identified in my data set.
As…
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For each gene panel, show the highest population frequency described for the causative variants in the panel. Could be added eg to the causatives view for sorting, or perhaps on the panel stats.
It…
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It might be better if the "summary record" appeared on top of the list of variant entries instead of the "classification record" - the summary record is distinct because it does not represent an actua…
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Hi Jody
When running TBProfiler (using --vcfprofile) on data generated by lofreq, the frequencies of the variants are computed incorrectly. If there are two variants on the same positions (see exam…
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It would be great to have a browse view that was disease centric.
Proposed columns (some of which may require new endpoints from the server side @acoffman) :
- Disease X
- Disease synonyms?
- Genes w…
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Allowing this can lead to some weird states when x'ing out and adding new genes.
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I have just used cactus minigraph to align 10 ~ 1.1 Gb genomes with the commands:
```
cactus-minigraph \
./jobstore \
../genome_seq_file.txt \
${prefix}.sv.gfa \
--reference $r…
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This is to track a new tool for more exhaustive support for compound heterozygotes. The current tool supports probably 90% of use-cases.
Other uses include:
1. detecting non-standard compound var…