-
Notifications
You must be signed in to change notification settings - Fork 76
Show clinical variants on gene models #380
New issue
Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.
By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.
Already on GitHub? Sign in to your account
Merged
Merged
Conversation
This file contains hidden or bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
Sign up for free
to join this conversation on GitHub.
Already have an account?
Sign in to comment
Add this suggestion to a batch that can be applied as a single commit.
This suggestion is invalid because no changes were made to the code.
Suggestions cannot be applied while the pull request is closed.
Suggestions cannot be applied while viewing a subset of changes.
Only one suggestion per line can be applied in a batch.
Add this suggestion to a batch that can be applied as a single commit.
Applying suggestions on deleted lines is not supported.
You must change the existing code in this line in order to create a valid suggestion.
Outdated suggestions cannot be applied.
This suggestion has been applied or marked resolved.
Suggestions cannot be applied from pending reviews.
Suggestions cannot be applied on multi-line comments.
Suggestions cannot be applied while the pull request is queued to merge.
Suggestion cannot be applied right now. Please check back later.
This adds clinical variants to gene model diagrams. It enables users to see small variations and how they relate to disease.
Because Gene Leads shows protein domains in the same coordinate space, these place variations are especially useful.
Here's how it looks!
Show_clinical_variants_on_gene_models__Ideogram_2025-02-18.mov
Variants are shown as triangular "lollipops" atop the gene model. Hovering over a variant shows its basic genomic position and allele data, clinical significance, and a related disease. If available, a dbSNP ID (a.k.a. RS ID) is shown by default, as are less-common attributes like high review status (3+ stars). Clicking on a variant shows more detailed information, e.g. all related diseases, variant type, review status, origin, allele frequency, and ClinVar Variation ID.
Data comes from ClinVar. Only small variants with high signal are shown. Here "high signal" means the variant has a clinical significance of "pathogenic", "pathogenic / likely pathogeni" or "likely pathogenic", and a clinical review status of 2 stars or above (i.e. "criteria provided, multiple submitters, no conflicts", "reviewed by expert panel", or "practice guideline"). The associated pipeline #378.