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Some variants have different MAFs for the same population coming from different databases (for example https://genetic.tools/labs/test/primers/98/forward/21890486...21890505/).
What's the correct w…
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Hello,
As discussed by email, I would like to add the results of the following papers to the database. Could you please support me in this regards? Thanks.
1) A Genome-wide Association Study of …
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Hi!
I have recently listened to an ESHG talk about annotating variants in 5'UTR. I found it very interesting and it is worth trying. Below you can find their GitHub page and publications.
[https…
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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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MetaDome is a tool that scores positions based on how sensitive the position is to changes. Similar to pLi but it uses the information from protein domains combined with variant frequencies. We should…
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https://broadinstitute.atlassian.net/browse/CSP-26
HMAF in Evidence Summary Table. In the "Genetic Evidence: Case Level (variants, segregation)" table in the Evidence Summary in the GCI, the curato…
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**Describe the bug**
Hi, I downloaded the package and tried to copy the [simulation example code](https://kangchenghou.github.io/admix-kit/cli/simulate.html#simulation). After the setup step (in the …
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# How to Sync Data for this module
The following steps are needed to make your data loaded by the [genotypes loader](https://github.com/UofS-Pulse-Binfo/genotypes_loader) available to this module. …
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HGVS permits notation of multiple variants in series, defining them as an allele (“a series of variants in a protein encoded by one chromosome”; see [here](https://varnomen.hgvs.org/recommendations/pr…
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As part of the Variant Page effort, we have discussed to start developing the first two widgets (sample data has been shared on slack):
- [x] ClinVar
```
{
"alleleOrigins": [
"germli…