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Dear @mnshgl0110,
I hope this message finds you well. I am reaching out to you because I am currently utilizing Syri, which I find to be an exceptionally useful tool for calling structural variants (…
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**Tool Details**
- Name of tool: Subread Align
- Tool homepage: http://bioinf.wehi.edu.au/subread/
- Tool description: A general-purpose read aligner which can align both genomic DNA-seq and RNA…
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Hi again,
We're super happy users of JBrowse but there are some features that are being missed from IGV. One of these is the way of viewing split/discordant reads resulting from structural variants si…
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# Problem
The [`aggregateSum`](https://github.com/morintd/prismock/blob/9fa7e56e1baaa11f477cd8fb58ae062e51309be9/src/lib/operations/aggregate.ts#L67) function doesn't work for values in a `Decimal`…
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Currently, we represent Structural Variants (SVs) as symbolic alts (```, , ```) when they are above 1000 bases
But, 200 bases or even 50 is starting to get unwieldy - eg in variant search results, …
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Just an issue to collect any relevant papers. For example, there's a whole Genome Biology issue on graph genomes at
https://www.biomedcentral.com/collections/graphgenomes (also see "Pangenome Graph…
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Hello @jiadong324,
Thank you for developing such an excellent tool. I have used SVision to detect tandem repeat variations in the HG002 sample with the GRCh38 reference. I employed the default comm…
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Currently an endpoint for retrieving annotations for an individual case is already exposed in the following endpoint:
https://github.com/bihealth/varfish-server/blob/1e956c92aabfc7fee9caaefaec60f00…
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The prior vcf that is distributed BayesTyper has a very comprehensive list of SVs. Now there is a recently released SV vcf from gnomAD would be great to add to the present prior list: gnomadSV v2.1 vc…
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Hello Developers,
I've successfully built a pan-genome consisting of 12 genomes using MC without any problems. Thank you for your kind descriptions on GitHub.
Now, I'm planning to find more SVs …