Nico Matentzoglu
@matentzn.bsky.social
Knowledge Graphs, Ontologies, Data Standards, Open Data Communities
Reposted by Nico Matentzoglu
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...
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…
monarchinit.medium.com
February 28, 2025 at 12:36 AM
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...
Reposted by Nico Matentzoglu
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 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.
www.nature.com
February 28, 2025 at 12:40 AM
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...
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”?
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”?
December 26, 2024 at 12:03 PM
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”?
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”?
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
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
December 4, 2024 at 1:34 PM
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
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
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....
Core concepts of phenotype data - Unified Phenotype Ontology
obophenotype.github.io
November 27, 2024 at 7:32 PM
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....
Reposted by Nico Matentzoglu
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-...
OPEN LETTER CAMPAIGN - Global Biodata Coalition
Careers at the Global Biodata Coalition.
globalbiodata.org
November 21, 2024 at 4:31 PM
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-...
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-...
November 21, 2024 at 11:20 AM
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-...
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/
November 18, 2024 at 12:25 PM
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/