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Hi,
There seem to be a problem with running the following script below when I apply a --freqUpper filter of 0.01 or 0.05. The script would run without a problem when the --freqUpper is set to 1 (equ…
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Thanks a lot for this great tool. I have some puzzles wanting for help
1 Can it be used for somatic
2 can it call EGFR or other genes complex variants
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Hi guys,
I get regular requests from collaborators to look if we have seen germline variants in a specific gene within our AFHCS or GA cohorts. I've created a 'Gene Search' analysis to have a quick…
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Hi, and thanks for making this tool. Suppose exomiser is evaluating variation in a gene and considering a compound heterozygous, autosomal recessive model of inheritance, and suppose the final report …
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Hello @jodyphelan,
We are currently implementing the analysis of IS6110 insertions onto our structural variants workflow, but we are running into some unexpected TBProfiler outputs.
The attache…
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### This feature attempts to solve an existing problem
None
### I am open to developing or collaborating on an extension module if this is not a good fit for Tripal Core
None
### Is this feature u…
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Hello Xihao!
I would suggest two types of information that would be very informative in the summary and annotation of all steps.
For quantitative phenotype, a simple mean/median of the trait for eac…
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Add an option to filter by position or for specific variants instead of gene name; check the reference allele for input variants.
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Hello, I would like to ask, what are the differences between the individual analysis in the STAARpipeline (analysis centered on a single locus variable) and the traditional GWAS analysis using the pli…
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Add basic statistics for the filtered table in echo command.
This could include for example:
- [ ] number of variants
- [ ] number of samples
- [ ] number of genes
- [ ] het / hom counts
- [ ] t…