-
I have downsampled WGS data of Epilepsy patients from 30x to 10x. By just looking at pathogenic and likely pathogenic variants, I noticed a difference of 4 for seed1 and 5 for seed2. The gnomAD scores…
-
Update the following URL to point to the GitHub repository of
the package you wish to submit to _Bioconductor_
- Repository: https://github.com/mtmorgan/AlphaMissenseR
Confirm the following by …
-
- 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**
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…
-
**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 …
-
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