HPO
@hp_ontology
Human Phenotype Ontology ; the free and open standard for deep phenotyping in precision medicine, genomics, and rare diseases.
ID: 3351675713
http://human-phenotype-ontology.org/ 30-06-2015 11:26:15
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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
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
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/)
🌟 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