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We are trying to use genotyping arrays (Axiom) to get VCFs for demuxlet.
Are there any recommended steps / tutorials for SNP cleaning and filtering to optimise the demuxlet yield?
We are curren…
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Hi @joellembatchou ,
Along with this issue https://github.com/rgcgithub/regenie/issues/256 and the other here: https://github.com/rgcgithub/regenie/issues/454
I have a similar question: If we spe…
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Add a database and model constraint to ensure a source must have a citation id.
Remove the erroneous source 2841, flag or fix EIDs impacted and add test cases to ensure evidence cannot be submitte…
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**Background**
At the moment, user can customize the displayed set of NGB panels, their sizes and/or placement as he/she wants. This customization is automatically being saved for the user. Also user…
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Hi, I just tried to load a VCF file where info fields' names contained points:
```
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##INFO=
##INFO=
##INFO=
##INFO=
##INFO=
##INFO=
##INFO=
##INFO=…
Hoeze updated
3 years ago
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The question of use cases for the variant annotation API came up on yesterday's call so we thought it would be good to create an issue to share ideas.
As well as the approach discussed - querying for…
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Variant page feedback points from EMD (from discussion with Carlos):
- [x] Ensembl link at the top of page: is it possible to take the user directly to the variant page instead of the search result…
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We didn't systematically try to really delve down into alternative splice variants, at least in the protocol associated with PPYR_OGS1.0. How to handle those? Do we need to handle those? In all my …
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We recently reconsidered the use of RO:0002200 ! has_phenotype in G2P associations, deciding to use more precise relations indicating causality or contribution to the condition (disease or phenotype).…
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Hello!
I was just wondering if this software would be useful to determine full haplotypes or quasispecies in "multiple" CRISPR edited polyclonal mixtures (for example 2 sgRNA's cutting close to each …