-
Hey Tony, this is an odd one. There are occasions where the ClinVar icon in the left menu and the variant card are different colours. Any idea why?
This one is red in the menu and gray in the card
!…
-
- As an analyst
- I would like variants to be annotated with clinvar consequences at the same codon
- So that I can see relevant consequences at each clinvar locus even if a specific change wasn't …
-
**Describe the bug**
The saved recessive SV search seems to only have SNVs/ Indels in the results.
**Link to page(s) where bug is occurring**
Recessive SV results -
https://seqr.broadinstitute.o…
-
We should scope a first iteration of integration of [ProtVar](https://www.ebi.ac.uk/ProtVar/) data/info into the Platform.
**DISCUSSED**:
We can add a "ProtVar" link to all the variants (`genetic …
-
**Describe the bug**
Variants in the results list go missing when I choose to 'unpair' variants in an unrelated gene. In the example here, I ran a recessive permissive search. The results included co…
-
New term request Skin biopsy: squamous epitheliomas (elthat_160614030713): Multiple self-healing UMLS: 0546476
-
Hello,
Thank you. I found the tool to be super helpful. I have few queries and suggestions:
GnomAD SV database is from 10,847 individual genomes. Study was started on 14,891 individuals and aft…
-
**Is your feature request related to a problem? Please describe.**
We updated the HPO prioritized gene list on the Family Page to show the top ten results. However, the feature to show variants in hi…
-
New term request Matrix metalloproteinase 2 enzyme activity low in blood or fibroblasts (elthat_160722074955): MMP2
-
I'm interested in execute Lirical with a high number of HPO profiles. I think that the phenopacket's cohort feature is the correct option to manage this situation but Lirical not supports this. It onl…