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I'd like to request a term for hypervalinemia and hyperleucine-isoleucinemia. This is the first of several terms I am requesting from the first paper cited below on amino acid metabolism disorders, so…
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Although tests seem to pass locally, it seems that commits cause a test failure on the automatic testing instance:
https://github.com/RTXteam/RTX/actions/runs/7225709946/job/19689713862
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**Is your feature request related to a problem? Please describe.**
The `geneinfo` app isn't used much anymore, expect for resolving gene panels. This can be done with a call to `annonars`. Double che…
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Beacon API proposals:
1. ~~Change the evidence date to a json object `{"year" : 2015, "month" : 4, "day" : 23}` rather than a string. If we do this then there is no possibility of different beacons…
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I noticed that kazu changed the input text. I'm curious how it made this mistake and how to prevent it.
To recreate: I passed in a text block that contained the text "The CFIm25 deletion leads …
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- EXP annotations to this term are here:
https://docs.google.com/spreadsheets/d/17UgKKsxtQveZW9o5cvqlaNpGS5Zx2ymZVkdW9vZjzxc/edit#gid=0
(Edited to make clearer):
GO:0006351 transcription, DNA-…
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VEP runs successfully with no error, but output VCF only contains VCF header of input VCF
I was generally trying to follow the example [here](https://www.ensembl.info/2024/08/09/cool-stuff-ensembl…
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- [x] Query UTA for all transcripts that have alignments overlapping our alignment using the hit locations and chromosome obtained from BLAT Alignment.
- [x] From those transcripts, select for those …
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I'd like to request a term for autosomal recessive intellectual developmental disorder 82.
OMIM: https://omim.org/entry/620779
Potential definition: Autosomal recessive intellectual developmenta…
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### Description of feature
- [x] convert2bed
- [x] fusioncatcher: keep local, test won't work
- [x] fusioninspector: keep local, test won't work
- [x] fusionreport: keep local, specific to rnafusion
…