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Update the following URL to point to the GitHub repository of
the package you wish to submit to _Bioconductor_
- Repository: https://github.com/daewoooo/SVbyEye
Confirm the following by editing…
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Hello,
I need help on an issue that is not directly related to the material, but as I built my pipeline based on your (awesome) tutorials, maybe you have an idea or even find that a helpful questio…
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Currently, `ILLUMINA` is hardcoded in as the platform in the bam header. With more platforms being used in the genomics core (particularly `ELEMENT` and `ONT`), we should provide flexibility in config…
kew24 updated
2 months ago
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Dear Daianna,
I have used your pipeline to analyze new data and obtained promising results. Thank you.
During the analysis, I encountered one challenge regarding the precise determination of the…
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First pass ingest of ClinVar-XML (#276) did not include genomic or cytogenic locations of variants. We will extend the modeling and ingest to add this information.
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**Is your feature request related to a problem in the current program to new available techology or software? Please describe and add links/citations if appropriate.**
Our local geneticists are loo…
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Dear Freebayes Developers,
I am asking for your advice on a set of in/del variants that Freebayes seems to miss. When running FB 1.3.8 in debugging mode with -dd switch, one can see that these vari…
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Hi,
We are attempting to annotate all variants for the KRT86 gene. Based on the HG38 genomic location of KRT86, we obtained all gnomAD v4 variants within this region. While exploring the OpenCRAVA…
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I've found the bug while using the `genome-nexus-annotation-pipeline`. I've noticed that `dbSNP_RS` column of maf file were not populated consistently. Sometimes I would get this column blank, while m…
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Hello,
It should be useful to be able to right-click on a variant in the IGV viewer and have an option to generate HGVS compliant nomenclature for a variant.
Thank you,
Dmitriy