The Monarch Initiative

Introducing the Vertebrate Breed Ontology (VBO) Monarch is thrilled to share that our paper, “The Vertebrate Breed Ontology: Toward Effective Breed Data Standardization,” has been…

Introducing the #Vertebrate #Breed #Ontology (VBO)! 🐕 🐈 🐂 🐓 🐇 🐖 🐈‍⬛ VBO is an #openscience, community-driven ontology representing over 19,500 breed concepts across 49 species of livestock and companion animals. 🐎 Learn more in our blog post: monarchinit.medium.com/introducing-...
#VeterinaryMedicine

Rare disease gene association discovery in the 100,000 Genomes Project - Nature A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.

For #RareDiseaseDay we are excited to amplify exciting work from Monarch scientists published yesterday in Nature focused on rare disease-gene association discovery. This work led to the discovery of 69 novel gene-disease associations! 🧬 Amazing! Check out the article: www.nature.com/articles/s41...

Rare apart, strong together: how Mondo brings interoperability to the rare disease community A study conducted using data from Orphanet suggests that an estimated 300 million people, nearly 4% of the world’s population, are affected…

Every day, but especially on Rare Disease Day 2025, the Monarch Initiative celebrates our broad community working together to tackle the challenges of identifying and treating rare diseases. Check out our #RareDiseaseDay blog: monarchinit.medium.com/rare-apart-s...

Mondo Disease Ontology Highlights from 2024 By Sabrina Toro and Katie Mullen on behalf of the Mondo Team

Mondo team says Merry Christmas in great recap of this years milestones: monarchinit.medium.com/mondo-diseas...

Thank you @alliancegenome.bsky.social!

In scientific contexts where transparency is paramount, avoid to just “merge” data using some fuzzy algorithmic approach. Export your matching decisions in a SSSOM-style mapping set so your consumers can see why you merged, and contest the decision. mapping-commons.github.io/sssom/

Mappings are the glue of the Web of Research Data, enabling integration of information critical to the global coordination of humanity's most pressing issues such as #climate and #raredisease. Join the RDA Working Group to help promote reusable mappings! www.rd-alliance.org/groups/fair-...

Monarch Initiative The Monarch Initiative integrates, aligns, and re-distributes cross-species gene, genotype, variant, disease, and phenotype data.

Hello Bluesky! Glad to be here to talk about Genomics, Rare Diseases, Ontologies and Knowledge Graphs!

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