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Refer to [documentation](https://github.com/EBIvariation/eva-opentargets/tree/master/docs/manual-curation) for full description of steps.
**Checklist:**
- [x] Step 1 — Process
- [x] Step 2 — Cura…
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I'd like to request a term for intellectual developmental disorder with autistic features and language delay, with or without seizures"
OMIM: https://omim.org/entry/618906
Potential definition:…
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Realizing that deleting the foreign keyed objects within the assemble methods is going to be problematic if you then try to use the object later and expect that reference to exist.
https://github.c…
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This is expected.
I think we need to slightly refactor the way the analysis starts. We need to give the analysis a reference transcript (not a reference protein).
It also does not make sense to tes…
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Hi Brent, I'm using SLIVAR on a trio VCF that has been annotated using VEP firstly and then passed to vcfanno (thank you!) for clinvar annotations.
My info field looks something like this:
ch…
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I'd like to request a term for Nicolaides-Baraitser syndrome.
OMIM: https://omim.org/entry/601358. The gene is also associated with blepharophimosis-impaired intellectual development syndrome (htt…
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I'd like to request a term for macular retinal dystrophy 1, North Carolina type. This disorder is a little unusual genomically - it is a mutation in a DNaseI hypersensitivity site that affects two gen…
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Currently, we have half-baked typing of the combined reference datasets (`combined.ht` vs `combined_mito.ht`). `clinvar` is present in full in both datasets.
We should properly type the combined r…
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Hello,
I am using VEP tool for variants annotation and have encountered an issue when using the CADD plugin. I tried several different vcf files but never got any CADD scores. Here’s the command I’ve…
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### Description of the bug
sarek 3.4.0, nextflow 23.10.1.5893 hangs for me while (I guess, nextflow beginner here) waiting for input for the vep
step. The sample sheet contains one sample definition…