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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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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.**
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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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.
…
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New term request Corneal biopsy: disorganized collagen fibrils on transmission electron microscopy (elthat_100826013922):
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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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When I execute the script STAARpipelineSummary_Known_Loci_Pruning.r, there are several chromosomes that did not generate corresponding data, and the error is as follows:
used (Mb) gc trigger…
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New term request Glycogen brancher enzyme activity low in skin fibroblast (segal_090511164419): GBE; Amylo(1,4 - 1,6) transglucosidase deficiency UMLS: 1856314
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**Mondo term (ID and Label):**
MONDO:0011965 familial temporal lobe epilepsy 2
**Xref that should be fixed (ID and label):**
[Familial temporal lobe epilepsy](https://www.ebi.ac.uk/ols4/ontologie…
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There are a few SNPs with pathogenic WT alleles:
- chr2:27508073-27508073 T>C (GCKR, Fettleber) - AF67%
- chr2:27518370-27518370 T>C (GCKR, Fettleber) - AF66%
- chr7:87450090-87450090 T>A (ABCB4, chol…