cmbi / metadome

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.

https://stuart.radboudumc.nl/metadome/

cmbi/metadome Issues

Add hg38 support
Updated a year ago1
Downloadable resource
Closed 2 years ago10
First-time setup: installation issues
Updated 2 years ago12
could not connect to server: No route to host
Updated 2 years ago1
Add reCAPTCHA-like functionality to contact form
Updated 3 years ago
Change support request subject to a preset in default_settings
Updated 3 years ago
Is project alive?
Closed 4 years ago2
Add gene symbol entry for dashboard
Updated 4 years ago
Visualization suggestion: Add amino acid preferences as a heatmap to the meta-domain landscape
Updated 5 years ago
Additional information: Annotate/Visualize exon regions
Updated 5 years ago
Error since newest release: DisabledBackend Attribute error
Closed 5 years ago4
Improve gunicorn in docker images
Closed 5 years ago3
Provide access to the visualization of an ENST* via the dashboard link
Closed 5 years ago1
Some genes don't have any transcripts available for selection
Updated 5 years ago
Information improvement: Add number of missense/synonymous information to raw data output
Updated 5 years ago
Visualization suggestion: different colours for selecting and annotation of ClinVar variants
Updated 5 years ago
Visualization suggestion: Different colours for ClinVar within gene and from Homologue
Updated 5 years ago
Unsupported browser warning is also shown for newer chrome versions
Closed 5 years ago
Add RefSeq identifiers to the user interface
Closed 5 years ago2
Add gene names besides the genomic coordinates to the variants in the positional overview
Closed 5 years ago3
Upon clicking a bar graph in the MetaDomain landscape: open the selected position window for the corresponding position
Closed 5 years ago1
Link to corresponding gnomAD variants in the positional overview window
Closed 5 years ago1
In the domain overlay, sometimes the number of aligned homologues is undefined
Closed 5 years ago1
Add legend to meta-domain landscape
Closed 5 years ago1
Add option to the visualization to toggle between ClinVar variants found in the current gene or via meta-domains
Closed 5 years ago1
Add quantification of tolerance to positional information and hover text
Closed 5 years ago1
Add ESC as a manner to escape the positional and domain overview overlays
Closed 5 years ago1
Visualization idea: Add options for color selection, to allow users to select a color for marking positions
Updated 5 years ago
Option to retrieve all homologously related genomic positions for a 'selected position'
Updated 6 years ago
Alternative entrypoint to access 'selected position' results
Updated 6 years ago
Make direction of the user to the list of selected positions more clear
Updated 6 years ago
Schematic Protein amino acid letters: every fifth is faded out even at deep zooming
Closed 6 years ago1
function in tasks.py: Retrieve_metadomain_annotation -> task with a direct return
Closed 6 years ago1
getting rid of stubs
Closed 6 years ago1
Visualization tolerance landscape has a marking line that is in the tolerance color legenda
Closed 6 years ago1
Add download link for the metadomain alignment
Updated 6 years ago
Memory consumption
Closed 6 years ago4
Double check the java code for local variables initialized as 'var'
Closed 6 years ago
Get Request -> Post request
Closed 6 years ago1
Some gene prebuilds are >200MB of size
Closed 6 years ago2
Move toJson functions to presentation/api
Updated 6 years ago
Refactor models.entities.gene_region.py
Updated 6 years ago
database errors
Closed 6 years ago3
sql and psycopg2 errors
Closed 6 years ago3
prebuild_all.py: print status occasionally
Closed 6 years ago
result does not return rows
Closed 6 years ago2
Uniprot positions with multiple consensus positions of the same Pfam protein domain cause a crash
Closed 6 years ago4
download databanks in install script
Updated 6 years ago3
selenocysteine conversion
Closed 6 years ago6
string formatting exceptions
Closed 6 years ago1