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Dear Daianna,
Congrats for the paper. I am wondering if it is possible that you can share the missing documents using another repository, such as OSF or ZENODE. As far as I know the AlphaMissense_h…
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`chr19 4856354 Minda_62 N . PASS SVLEN=4485;SVTYPE=DEL;SUPP_VEC=ONT_severus_DEL3605,ONT_Sniffles2.DEL.A8M12,PB_ID_62144_2,PB_severus_DEL3193
`
https://v2.genomeribbon.com/?session=https://42basepair…
jzook updated
2 weeks ago
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Dear Apex author,
I have encountered a issue in using LMM for Apex Cis/Trans
For the cis analysis, with the following commands:
```
apex cis --vcf /mnt/mfs/statgen/neuro-apex/ROSMAP-vcf/ROSMAP…
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Also, a way to jump to a gene by typing it in somewhere would be really useful.
My prompt for this is I am scrolling through TP53 in Cycledash / dalliance looking for any possible indication of varia…
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In https://groups.google.com/g/hgvs-discuss/c/7I1jP5m7bvk/m/wjUzIk0zAwAJ, Matt Ducar wrote:
> ⋮
> I get the following printout:
> NC_000017.10:g.7578369A>C
>
> NM_000546.5:c.559+2T>G
>
> Th…
reece updated
5 months ago
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Example:
http://beta.monarchinitiative.org/gene/MGI:1333812#variants
The subject column _looks_ like gene symbols, but these are all genotype symbols, the `
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This has been bugging me for the last 3 years but, technically the `autosomal_recessive` function is really doing a homozygous_recessive analysis. autosomal_recessive should equal comp_het + homozygou…
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This has caused some confusion over time. See comment: https://civicdb.org/events/genes/5177/summary/variants/2958/talk/comments
Perhaps we can add clarity for now by adding a tool tip since this …
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Hi Daneil,
For Hetionet, I have two brief questions and would like to hear about your insights:
1. on metabolomics side, why didn't you use the [HMDB database](http://www.hmdb.ca/) for linkin…
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# Objective
identify principal isoform as default record when a gene identifier is passed
See here:
[http://useast.ensembl.org/Homo_sapiens/Help/Glossary?id=521](http://useast.ensembl.org/Homo_sapie…