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CIViC (Clinical Interpretation of Variants in Cancer) is an open-access, community-driven resource for the clinical interpretation of cancer variants. To enhance Scout’s functionality for somatic vari…
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The number of unique values in https://civicdb.org/api/genes is 328, and the number of unique genes referenced by variants is 467. From this we can conclude that some variants refer to genes that do n…
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- build mehari transcript DB (ensembl):
- download cdot for ensembl and grch37 / grch38
- download ensembl FASTA for transcripts
- create / fill seqrepo with ENSEMBL FASTAs
- build…
tedil updated
5 months ago
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- Add option to add a record in LIMS XML for each gene that has no variants, so that it can be set as "no variants found" within LIMS, will be set on true/false option for each panel
- referral reaso…
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Hello, I'm trying to use mashr to robustly compare my own eQTL results from three conditions.
Actually, I've already got three eQTL result sets from the condition-by-condition alaysis.
Those eQTL re…
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Hi!
I used the following command to run the VarGen pipeline but I am getting the following error:
```
> disease_variants disease_annotation
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**Is your feature request related to a problem? Please describe.**
PubTator 3 is nice for genes. However, we don't have literature search for variants yet.
**Describe the solution you'd like**…
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Currently, variant queries on genes/transcripts return only variants in or within 75 bases of a CDS region. There should be arguments to include variants in UTRs, non-coding regions, and/or intron reg…
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### What kind of feature would you like to request?
Additional function parameters / changed functionality / changed defaults?
### Please describe your wishes
Hi scanpy team! I have a rather concep…
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### What you did:
I was checking a variant in Clinvar Variants section of gnomAD v4.
HGVS consequence shown in ClinVar variants section of gnomAD v4 is different from that of clinvar and gn…