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Edit: despite the title this link list now contains all kinds of reference material for benchmarking/normal-filtering SV (including CNV) calls on a population level as well on single sample (mostly ce…
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## Contextual method modules
[This is a half-baked idea meant as food for discussion, not a finalised proposal. Let me know what you think, or if you see ways to make it more powerful.]
### Moti…
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If I'm creating a genomicVariant specification from a VCF variant record, I can't see how I'd specify multiple alleles in a single genomicVariant: the variation property seems to be singular? For exam…
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Is there any experiments that used different random generators or it is well know that mutation only is normal distribution ?
In general does such experiment makes sense ?
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BDA mode has a decent system prompt at the moment. However, we should make some improvements to the conversation. One improvement is to allow ChatGPT to respond in smaller batches instead of all at on…
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@kzaret, thanks for the very helpful PowerPoint slides breaking down the sources of ring-count observation error. This tracks with my understanding of the three basic error components and fleshes out …
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VR needs to have a path for representing translocations.
Allele is currently defined as a contiguous sequence change at a single location. Translocations and junctions are unlikely to fit in that m…
reece updated
8 months ago
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There should be a consistent and well-documented approach to errors around "not found" values, both when encountered by the `traversal` package, and where they arise from single-step moves across node…
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Hello,
I am trying to run vg deconstruct on a vg file that I created from whole genome alignments. However, the command did not generate any output. None of the subcommands worked for deconstruct (…
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### What is the title of the roadmap you are submitting?
Roadmap to Bioinformatics
### Roadmap Link
# Bioinformatics Roadmap
**0. Why Bioinformatics?**
- **What is Bioinformatics?** Bioinfo…