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@martin2urban has a list of candidate chemistry papers for curation which he will add in a comment below.
Keep curation simple, focus on take-home message in title (Tier 1 curation https://github.c…
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**Is your feature request related to a problem? Please describe.**
We need more consistency in such methods as `_lof_is_frequent_in_population` and `_lof_removes_more_then_10_percent_of_protein` afte…
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### Description of feature
Could be good to do whatever can be done when we release to help prepare for validation.
I'm thinking benchmarking, GiAB, checking results...
Could be interesting to talk…
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**Mondo term (ID and Label)**
MONDO:0015429 choroideremia-hypopituitarism syndrome
**Reason for deprecation**
The Orphanet ID on this is obsolete, the UMLS 'CN' id is not correct either. Seems li…
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Greetings.
Trying to understand VEP a bit better. I am running VEP (version 112, perl 5.26.3) on a Linux server (CentOS) and have manually downloaded indexed cache GRCh38 from [here](https://ftp.en…
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Hi, I'm trying to prioritize with exomiser with the following patosources:
pathogenicitySources: [POLYPHEN, SIFT, CADD, SPLICE_AI]
but no annotation for SPLICE_AI was retrieved.
Could you please h…
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**Is your feature request related to a problem? Please describe.**
There are ACMG classifications for CNVs. VarFish does not provide support for them.
**Describe the solution you'd like**
Imp…
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New term request Corneal biopsy: disorganized collagen fibrils on transmission electron microscopy (elthat_100826013922):
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Hi Brent,
I would like to make annotated file of ExAC downloaded from [here](https://gnomad.broadinstitute.org/downloads)
`All chromosomes VCF
4.56 GiB, MD5: f2b57a6f0660a00e7550f62da2654948`
…
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Right now we have a flag for "genomes only" and "filtered" but a few other flags would also be useful to add. If flags have multiple flags we may have to figure out how to display multiple flags.
…