Skip to content
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

Add allele->genotype, allele->gene, gene->genotype associations from Alliance #946

Open
Tracked by #714
kevinschaper opened this issue Jan 30, 2025 · 0 comments
Open
Tracked by #714

Comments

@kevinschaper
Copy link
Member

kevinschaper commented Jan 30, 2025

This may be an update to https://github.com/monarch-initiative/alliance-genotype-ingest/ rather than a whole new modular ingest. (in fact, there's commented out code for genotype to variant associations). Which may mean also needing to bring in allele to gene associations from an additional file.

It should probably pull from https://www.alliancegenome.org/downloads#variants-alleles for allele to gene (AlleleId, AlleleAssociatedGeneId), while the allele to genotype is found in the AGM files used in the allance-genotype-ingest already

I think the allele nodes will likely also be able to come from the variants-alleles file, using AlleleId, AlleleSymbol, AlleleSynonyms, VariantsTypeId.

I'm initially examining this by looking at the zebrafish file, and I'm seeing some odd looking concatenated pub IDs in the VariantInformationReference

ZFIN:ZDB-PUB-231023-61PMID:37868296,ZFIN:ZDB-PUB-200102-5,ZFIN:ZDB-PUB-211221-18PMID:34921227,ZFIN:ZDB-PUB-190209-15PMID:30733854

The concatenation is weird, but I think it would work fine to extract PMID:[\d]+ and just ignore the ZDB-PUB IDs, since they appear to be pointing to the same publications. (https://zfin.org/ZFIN:ZDB-PUB-231023-61 links to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=search&db=PubMed&dopt=Abstract&term=37868296 for example)

@kevinschaper kevinschaper transferred this issue from monarch-initiative/monarch-ingest Feb 3, 2025
@kevinschaper kevinschaper added this to the 2025-03 Release milestone Feb 26, 2025
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

1 participant