Dr. Sebastian Köhler
@drseb_
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Expert AI engineer@adahealth. Co-founder of @hp_ontology and @phenomizer - work on digital health, ML, ontology. Member of @MonarchInit.
Berlin, Germany
Joined June 2015
RT @solinetzberlin: Die Linse muss bleiben!. Zusammen mit @Potse_Berlin und Libero e.V. haben wir heute eine gemeinsame Pressemitteilung ve….
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RT @hp_ontology: HPO goes international in our new publication «The Human Phenotype Ontology in 2024: phenotypes around the world». https:/….
academic.oup.com
Abstract. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease,
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Big announcement today. @hp_ontology goes multi-lingual: Thanks to all translators, @NicoMatentzoglu, and @pnrobins . @MonarchInit.
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RT @pnrobins: Enriching Representation Learning Using 53 Million Patient Notes through Human Phenotype Ontology Embedding .
biorxiv.org
The Human Phenotype Ontology (HPO) is a dictionary of more than 15,000 clinical phenotypic terms with defined semantic relationships, developed to standardize their representation for phenotypic...
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RT @deepakunni3: Congratulations to @ontowonka and the #N3C team for winning the Grand Prize on #DataSharing as part of the @FASEBorg DataW….
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RT @SnomedCT: Our recent agreement with @MonarchInit to develop maps from #SNOMEDCT to @hp_ontology and to @hp_ontology from #SNOMEDCT will….
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RT @SnomedCT: We recently signed an exciting collaboration agreement with @MonarchInit! As part of the agreement, the organizations will wo….
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Wow. Somebody using phenogramviz. Nice. Original paper was this:
jmg.bmj.com
Background Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions...
@hp_ontology @MonarchInit Phenograms to analyze structural variants in a neurodevelopmental disorder
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RT @dochoaj: @sarah_edo Absolutely! We should never forget that "legacy" systems were written by people doing the best they could to genera….
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RT @hp_ontology: The @phenomizer algorithm by @drseb_ in 2009 has been adapted and applied to identify generalisable clusters on persons wi….
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„it may be useful to introduce specific training modules on the use of HPO nomenclature both in medical school curricula and in post-graduate clinical training programs.“. Anybody here want to share thoughts on how we could make this happen? @hp_ontology.
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Not any expensive standard is requested. Instead: free and truly open standards that have been proven to work. Read the paper at
@hp_ontology @MonarchInit .Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests .
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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. @hp_ontology #freestandards #openstandards
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RT @pilarcacheiro: Lost track of how many talks include a slide describing the HPO @hp_ontology @MonarchInit .#ASHG22.
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Quote of the day: „there can be no explanation without semantics“.
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This happened so often for me in many obo ontologies. Tickets simply closed and seeing the change being implemented. No thanks or whatsoever.
Do not close GitHub issues on people without explaining exactly how they are addressed or why they are not addressed. This is not just annoying as hell, it also makes the issuer that took the time to write the issue feel unappreciated.
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RT @TheSeaMouse: Took me 1 year and 6 different doctors in 3 countries to diagnose me with Ankylosing Spondylitis when a smart chatbot (@ad….
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RT @jacksonlab: The Intl Org for Standardization has published "Phenopackets" (developed by @hp_ontology @MonarchInit, JAX's @pnrobins) --….
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