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pext scores are Beryl's transcript aware expression score. I was hoping it could be added to the in silico list. We use it in the opposite way from most scores - we use the score to downweight variant…
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# Backend
- [ ] remove fusions from the mutation_event table and leave existing fetch mutations endpoints un-touched.
- [x] add a new web service endpoint to pull fusions out from the new structural…
jjgao updated
8 months ago
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I have an issue related to somewhat atypical usage of nanopolish.
I am running nanopolish to call variants on around 500 contigs with sequences from related gene families (obtained through target e…
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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 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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Hi,
I encountered this error message while testing step 2 on my own data:
```
Error in mainMarkerInCPP(genoType, traitType, genoIndex_prev, genoIndex, :
Mat::elem(): index out of bounds
Calls…
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Hi,
I used the script "predict.py" to do the prediction of a vcf file, and I find that there is some difference between these results and the results from ExPecto website. A lot of variants could n…
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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 issue is related to (https://github.com/huguesrichard/Allopipe/issues/44) and refers to the special case where all alt alleles of a multiallelic site have the same gnomad AF (should also work whe…
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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…