iiinova — where your digital self keeps evolving

Reposted by Nico Matentzoglu

The Monarch Initiative @monarchinitiative.bsky.social · 28/02/2025

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...

monarchinit.medium.com

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…

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Reposted by Nico Matentzoglu

The Monarch Initiative @monarchinitiative.bsky.social · 28/02/2025

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...

nature.com

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.

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Nico Matentzoglu @matentzn.bsky.social · 26/12/2024

How do folks add node property provenance that rely purely on LPG in their integration layer? In our world of biomedical knowledge graphs and ontologies it is essential to be able to provide provenance/attribution for node properties (rather than edge properties), eg “who has curated that synonym”?

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Nico Matentzoglu @matentzn.bsky.social · 04/12/2024

Side project: A SSSOM validator, deployed as a streamlit app: sss-om-validate.streamlit.app It is one big hack, but may be useful for some that use SSSOM to standardise entity mappings. There are issues, please report: github.com/mapping-comm... Brought to you by @monarchinitiative.bsky.social

sss-om-validate.streamlit.app

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Nico Matentzoglu @matentzn.bsky.social · 27/11/2024

Yesterday we had another fun debate at an @obofoundry.bsky.social Operations Meeting about what a phenotype is, and how it is different from related concepts like "biomarkers", "disease" etc. Here is a take of (a subset of) @monarchinitiative.bsky.social: obophenotype.github.io/upheno/refer....

obophenotype.github.io

Core concepts of phenotype data - Unified Phenotype Ontology

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Reposted by Nico Matentzoglu

Rat Genome Database @ratgenome.bsky.social · 21/11/2024

Global biodata resources are at risk - funding models are fragile and unsustainable. GBC's open letter campaign needs your support to call for solutions. Science leaders have already signed the letter, please join them. Click here for more: globalbiodata.org/open-letter-...

globalbiodata.org

OPEN LETTER CAMPAIGN - Global Biodata Coalition

Careers at the Global Biodata Coalition.

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Nico Matentzoglu @matentzn.bsky.social · 21/11/2024

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-...

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Nico Matentzoglu @matentzn.bsky.social · 18/11/2024

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/

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