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.

Sign up for GitHub

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

Jump to bottom

Update mi.org/publications page with fall 2024 publications #931

Open
sagehrke opened this issue Dec 20, 2024 · 1 comment
Open

Update mi.org/publications page with fall 2024 publications #931

sagehrke opened this issue Dec 20, 2024 · 1 comment
Assignees
@ptgolden

Comments

@sagehrke
Copy link
Member

Hi @ptgolden - can you please do an update of the monarchinitiative.org/publications page to have the fall 2024 publications? You can find the update in our google scholar
Thank you!
@sagehrke
Copy link
Member Author

I believe these are the ones missing:

  • The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics. bioRxiv [Preprint]. 2024 Sep 22:2024.09.18.613276. doi: 10.1101/2024.09.18.613276. PMID: 39345458; PMCID: PMC11429889.
  • The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity. Nucleic Acids Res. 2024 Nov 12:gkae1070. doi: 10.1093/nar/gkae1070. Epub ahead of print. PMID: 39530240.
  • The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. PMID: 39606380; PMCID: PMC11601709.
  • Efficient reinterpretation of rare disease cases using Exomiser. npj Genom. Med. 9, 65 (2024). https://doi.org/10.1038/s41525-024-00456-2

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Assignees

@ptgolden ptgolden

Labels
None yet
Projects
None yet
Milestone
No milestone
Development

No branches or pull requests
2 participants
@ptgolden @sagehrke