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Creating this ticket to begin collecting requirements and considerations for modeling "Genetic Conditions". This is the name we have given to the concept of "A disease or set of one or more co-occur…
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_From [irasc...@gmail.com](https://code.google.com/u/104729248032245122687/) on June 28, 2010 13:22:50_
There's also some inconsistency with parts with naming, GND, 0V, VSS,
VCC, +V, 3.3V, 3V3 both i…
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Hi dear Ensembl team,
I'm having some issues because I would like to annotate my genetic variants based on the canonical isoforms from UniProt, but I can't find a way to do it. Sometimes the MANE …
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There is a [new collection](https://rvs.u.hpc.mssm.edu/divas/) of background panels out; it would be nice to have their variants annotated in GEMINI.
> The Disease Variant Store provides information …
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AlphaFold's team just published a new tool - AlphaMissense:
https://www.science.org/doi/10.1126/science.adg7492
Calculated predictions are available at https://zenodo.org/record/8208688 (link take…
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Hi,
Thank you very much for such a nice tool. usage: PanGenie [options] -i -r -v
I fund the paper (https://www.biorxiv.org/content/10.1101/2020.11.11.378133v1)said that :we propose a new algor…
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I got this error with my input vcf, is it not recommended to pre-phasing one sample by shapeit4?
The input VCF is generated by the variant calling in WGS or WES platform, and it is not under pre-p…
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Hi, this is a great idea, and really useful package. 2 quesions:
1. I note from the README.md that this package is "based on the original SAIGE package (v0.29.4.4)". But I'm not certain if that me…
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I can succesfully run the glmm.score model, but when i run the SMMAT command, it output partial results and reported the error:
**Error in if (n.p == 0) next : missing value where TRUE/FALSE needed
…
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**Describe the bug**
Some users try to validate protein level variants such as `NP_061966.1:p.(Gln289_Gln332del)` but the error message is not sufficiently informative. Submission of this variant pro…