You can now use 🍇 to compute HPO pairwise Philip Resnik scores, ~270M, on your notebook in about 1 second ⚡

If you have a github account and are a fan of open standards for describing human symptoms and clinical descriptions, please „star“ the human phenotype ontology project on github. HPO #freestandards #openstandards

HPO Monarch Initiative Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests pubmed.ncbi.nlm.nih.gov/36539179/

The Phenomizer algorithm by Dr. Sebastian Köhler in 2009 has been adapted and applied to identify generalisable clusters on persons with #LongCovid

Monarch Initiative HPO and #deepPhenotyping in our #exomiser tool improves #rareDisease #diagnostics! NIH ORIP National Human Genome Research Institute Rare Disease UK NORD

HPO Monarch Initiative Phenograms to analyze structural variants in a neurodevelopmental disorder pubmed.ncbi.nlm.nih.gov/36691971/

Wow. Somebody using phenogramviz. Nice. Original paper was this: jmg.bmj.com/content/51/11/…

Enriching Representation Learning Using 53 Million Patient Notes through Human Phenotype Ontology Embedding biorxiv.org/content/10.110…

RD-Connect Leslie Matalonga Don’t miss the opportunity to get hands-on advice on how to analyse your #RareDisease cases via the RD-Connect GPAP! CNAG Steve Laurie @ERN_RND 🧠 ern euro_nmd ERN-ITHACA _ERNRITA EpiCARE Holm Graessner NicolineHoogerbrugge Richarda de Voer gagneurlab Orphanet HPO

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding ⁦HPO⁩ sciencedirect.com/science/articl…

HPO: triangular face, midface retrusion, webbed neck, down-slanted palpebral fissures, hypertelorism, ptosis, strabismus, low-set posteriorly rotated ears, anything else that I missed?

Big announcement today. HPO goes multi-lingual: groups.io/g/human-phenot… Thanks to all translators, Nicolas Matentzoglu, and Peter Robinson Monarch Initiative

Excited about Michael Bradshaw's 1st 1st-author paper biorxiv.org/content/10.110… Mixed STRING & HPO. Used time-series learning to id co-clustered genes/traits that may explain unsolved cases. Tested on MyGene2 & Children's Hospital Colorado patients. Slick GUI at ryanlayerlab.github.io/BOCC/)

HPO goes international in our new publication «The Human Phenotype Ontology in 2024: phenotypes around the world» academic.oup.com/nar/advance-ar…

🌟 Publication alert: Solve-RD's phenotypic similarity-based approach for solving undiagnosed #rarediseases, with 42% of diagnoses clinically validated. Read more here 👉🏽nature.com/articles/s4143… Orphanet Ana Rath Lagorce David Marc Hanauer Leslie Matalonga Holm Graessner Dr. Sebastian Köhler

The third Global #Bipolar Cohort/Human #Phenotype #Ontology HPO workshop is on. Working towards a better, deeper, more comprehensive definition of #BipolarDisorder with colleagues from around the world in #Budapest. Giovanna Fico European Psychiatric Association #EPA2024

No, it wasn't a #SaturdayNightFever reenactment but our #EPA2024 European Psychiatric Association Core Symposium on the #GlobalBipolarCohort & HPO #HumanPhenomeOntology of #BipolarDisorder in #Budapest. Thanks to Giovanna Fico, Kürşat Altınbaş, Melvin G. McInnis, M.D., FRCPsych & Janice Fullerton for a

In this version, we... 📚 Updated the version of PubMed used National Library of Medicine 🏥 Updated the version of the Human Phenotype Ontology used HPO 🫁 Updated searchable disease subfields (now including COVID-19!) (2/6)

📢📢📢 Preprint alert! We put ChatGPT to good use and annotated the severity of >17,000 phenotypes within the HPO! OpenAI HPO medrxiv.org/content/10.110… 1/n