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Hi all,
EagleC had offered structural variants with great precision.
We did a high-depth sequencing of several well-known cell lines to test our hi-c experiments modified from classic in-situ …
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The current test data only includes breakpoint rearrangements, the DUP and DEL cases are not included. We would like to also have these test cases for our copy number beacon.
Copy number variants …
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Hi,
I'm trying to use the workspace help-gatk/GATK-Structural-Variants-Single-Sample](https://anvil.terra.bio/#workspaces/help-gatk/GATK-Structural-Variants-Single-Sample to call SVs on a few individ…
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https://doi.org/10.1038/s41586-024-07769-3
Please keep this checklist for curation of a new study.
- [ ] [create an issue on datahub](https://github.com/cBioPortal/datahub/issues/new) before cur…
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Hello,
I have been trying to genotype structural variants from a graph made with minigraph-cactus, by mapping short reads with vg giraffe, then using vg pack and vg call to get a vcf. This runs wit…
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There are a number of issues present that I think, indicate that there are multiple children of the sequence variant entity.
When I go to browse the model (https://biolink.github.io/biolink-model/…
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We need to export Variant Information including Interpretation from Varfish into a database for bookkeeping and at some point for creation of reports.
This process is also currently used to create …
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The status of `Well-founded` and variants is unclear.
Today, it is used for `Int`, which is not right, because integers are not well-founded. But this is more-or less sound because Why3 adds the re…
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It seems that `bcftools stats` do not work properly with vcf file v4.1 (version allowing structural variants).
It would be nice to mention in manual / readme / help page that bcftools do not work w…
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Hi,
I’ve been using EagleC to analyze HiC data, and I’ve encountered some results that I’m having trouble interpreting. The output looks like this:
chrom1 pos1 chrom2 pos2 ++ +- -+ --
chr10 315…
qolba updated
2 months ago