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I'd like to request a term for peroxisome biogenesis disorder 9B. There is another condition associated with this gene that is already in DO, rhizomelic chondrodysplasia punctata type 1. PEX7 may also…
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## Describe the issue
Differences in mutated.fasta between 106 and 110 versions described here: https://github.com/Ensembl/ensembl-vep/issues/1350, but issue is closed and I cannot reopen it.
Opened…
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New term request Lipoprotein(a) low in blood (elthat_140129053354): LPA; Lp(a)
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Replace the current MGI upstream pipeline with a local GO pipeline for the human orthology file.
Would be using the GO human file, the MGI GPI file, and a TBD (AGR) orthology file.
kltm updated
6 months ago
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The [DNA/substitution page](https://hgvs-nomenclature.org/stable/recommendations/DNA/substitution/) lists the following question and answer:
> "How can I shorten the descriptions of SNPs in a manus…
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**Describe the bug**
Clair3 VCF files merged with GLNext cannot be annotated.
**To Reproduce**
See below for a transcript.
```
$ mehari annotate seqvars --path-db /data/cephfs-1/work/grou…
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## Overview
Melissa exposited a use case that this group has had for a while, which is “Give me on all the lab terms for a given gene”. However, it may be that we don't have the appropriate gene term…
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Hello,
To simplify the relations used for annotation extensions, we propose to use 'has_input' instead of 'has_regulation_target'.
Annotations are here:
https://docs.google.com/spreadsheets/…
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protein kinase activator activity
Ontology Molecular Function
Definition Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein.
is a descendent of
G…
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I'm not sure, but assume that the p-value is caculated from random permutation. But when I increase the permutation times like set iterations to 100000, the output minimum is still 1e-3 in the file 's…