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The dunovo tutorial provides a great introduction to consensus correction and calling non-diploid low frequency variants:
http://galaxyproject.github.io/training-material/topics/variant-analysis/tu…
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We need to create some mondo subset files for use in KGs along the following lines:
- Rare disease subset
- Rare disease subset with leaf nodes representing variants in same gene rolled up to pare…
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I noticed that VEP 112 predicts an opposite consequence as compared to previous versions for certain insertions (rare cases). It predicts `inframe_insertion,stop_retained_variant` in cases where `fram…
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## Feature Request
### Crates
`tracing`
### Motivation
Currently, this code is impossible it seems:
```rust
let level = tracing::Level::DEBUG; // Imagine this is decided at runtime.
t…
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![微信图片_20240314165254](https://github.com/BGI-shenzhen/LDBlockShow/assets/86965493/fce69d7c-006d-43e4-b078-40d1dc4caea3)
Hi,
I found some SNP/Indel sites were filtered, can I rescue them by certai…
tydcg updated
2 weeks ago
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Using sniffles 2.4 in merge mode on chm13 produced an invalid variant.
This isn't a huge problem because most vcf parsers can handle the error plus SVs at the beginning of chromosomes should be a …
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Hi @joellembatchou,
So I'm running regenie for UKB data while using the burden/skat-o options.
I was wondering if there's any workaround to include variants in which the REF allele is actually …
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I ran into this when doing some testing and I haven't been able to figure out what the issue is so I figured I'd post. These are cows. Below is the beginning of the log for `phase_common` which runs f…
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Add the blue axolotl equivalent to the frogs, a gold one with a special quality that’s super rare and requires a ton of criteria before you can find or get one.
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### Description of the bug
ERROR ~ while scanning a simple key
in 'reader', line 3, column 1:
0.4.8
^ …