@drseb_

Expert AI engineer@adahealth. Co-founder of @hp_ontology and @phenomizer - work on digital health, ML, ontology. Member of @MonarchInit.

 Berlin, Germany
scholar.google.de/citations?user=fqukiWoAAAAJ&hl=de
Joined June 2015
  • Tweets676
  • Following515
  • Followers477
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Die Linse muss bleiben! Zusammen mit @Potse_Berlin und Libero e.V. haben wir heute eine gemeinsame Pressemitteilung veröffentlicht!
Potse@Potse_Berlin13 Dec 2023
Es gibt Hoffnung! Heute am #B1312 veröffentlichen wir unsere gemeinsame Pressemitteilung mit @solinetzberlin und Libero e.V. für eine Rettung der #Linse und einer Zukunft der #Potse! Text im Thread folgt.
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ALT PM erste Seite. Text im Thread

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Dr. Sebastian Köhler retweeted
HPO@hp_ontology16 Nov 2023
HPO goes international in our new publication «The Human Phenotype Ontology in 2024: phenotypes around the world» academic.oup.com/nar/advance…

The Human Phenotype Ontology in 2024: phenotypes around the world

Abstract. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease,

academic.oup.com
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Big announcement today. @hp_ontology goes multi-lingual: groups.io/g/human-phenotype-… Thanks to all translators, @NicoMatentzoglu, and @pnrobins @MonarchInit
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Dr. Sebastian Köhler retweeted
Peter Robinson@pnrobins3 Mar 2023
Enriching Representation Learning Using 53 Million Patient Notes through Human Phenotype Ontology Embedding biorxiv.org/content/10.1101/…

Enriching Representation Learning Using 53 Million Patient Notes through Human Phenotype Ontology...

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...

biorxiv.org
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Dr. Sebastian Köhler retweeted
Deepak Unni@deepakunni322 Feb 2023
Congratulations to @ontowonka and the #N3C team for winning the Grand Prize on #DataSharing as part of the @FASEBorg DataWorks! Challenge! 🎉 And even more congratulations to @ontowonka and the @MonarchInit for winning the Distinguished Achievement Award for #DataReuse! 🎉
NIH Office of Data Science Strategy@NIHDataScience21 Feb 2023
🎉CONGRATS to the winners of the @FASEBorg DataWorks! Prize🎉 🔁Grand Prize, Data Reuse: BrainChart — "Brain Charts for the Human Lifespan" 🤝Grand Prize, Data Sharing: N3C — "Democratizing Access to Clinical Data" Check out the winning projects: datascience.nih.gov/director… #NIHData
Announcing FASEB DataWorks! Prize Winners

ALT Announcing FASEB DataWorks! Prize Winners

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Dr. Sebastian Köhler retweeted
SNOMED International@SnomedCT13 Feb 2023
Our recent agreement with @MonarchInit to develop maps from #SNOMEDCT to @hp_ontology and to @hp_ontology from #SNOMEDCT will help advance research into hereditary and genetic conditions and improve #interoperability: bit.ly/3JJjc2s @CUAnschutz, @ontowonka @sro_healthIT
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Dr. Sebastian Köhler retweeted
SNOMED International@SnomedCT6 Feb 2023
We recently signed an exciting collaboration agreement with @MonarchInit! As part of the agreement, the organizations will work together to develop maps from #SNOMEDCT to @hp_ontology and to @hp_ontology from #SNOMEDCT. Learn more: bit.ly/3JJjc2s
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Wow. Somebody using phenogramviz. Nice. Original paper was this: jmg.bmj.com/content/51/11/76…

Clinical interpretation of CNVs with cross-species phenotype data

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...

jmg.bmj.com
Peter Robinson@pnrobins26 Jan 2023
Replying to @hp_ontology
@hp_ontology @MonarchInit Phenograms to analyze structural variants in a neurodevelopmental disorder pubmed.ncbi.nlm.nih.gov/3669…

Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelo...

We describe a 3.5-year-old Iranian female child and her affected 10-month-old brother with a maternally inherited derivative chromosome 9 [der(9)]. The postnatally detected rearrangement was finely...

pubmed.ncbi.nlm.nih.gov
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Dr. Sebastian Köhler retweeted
Daniel Ochoa John@dochoaj21 Dec 2022
Replying to @sarah_edo
Absolutely! We should never forget that "legacy" systems were written by people doing the best they could to generate impact/ship features and so. IMO we should never underestimate that and we better learn from it and plan to evolve it in an organic way.
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Dr. Sebastian Köhler retweeted
HPO@hp_ontology22 Dec 2022
The @phenomizer algorithm by @drseb_ in 2009 has been adapted and applied to identify generalisable clusters on persons with #LongCovid
Peter Robinson@pnrobins21 Dec 2022
Replying to @hp_ontology
@hp_ontology @MonarchInit The Phenomizer algorithm (Sebastian Koehler et al 2009) adapted and applied to identify generalizable clusters on persons with long COVID authors.elsevier.com/sd/arti…
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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 reader.elsevier.com/reader/s…
Peter Robinson@pnrobins21 Dec 2022
Replying to @hp_ontology
@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 pubmed.ncbi.nlm.nih.gov/3653…
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I am also on mastodon now at @drseb@techhub.social
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Dr. Sebastian Köhler retweeted
HPO@hp_ontology17 Dec 2022
HPO now also at mastodon. See @hpo@masto.ai
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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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Dr. Sebastian Köhler retweeted
Pilar Cacheiro@pilarcacheiro28 Oct 2022
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
Nicolas Matentzoglu@NicoMatentzoglu22 Sep 2022
Replying to @NicoMatentzoglu
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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Dr. Sebastian Köhler retweeted
Hassan Hayat 🔥
@TheSeaMouse2 Sep 2022
Took me 1 year and 6 different doctors in 3 countries to diagnose me with Ankylosing Spondylitis when a smart chatbot (@adahealth) found it in seconds. I, for one, welcome our robot diagnostician overlords.
Steven Pinker
@sapinker2 Sep 2022
AI outperforms docs in diagnosing ear infections: No surprise, since one of the most robust findings in psychology ("clinical vs actuarial prediction") is that even simple statistical formulas usually outperform experts when compared head to head. hms.harvard.edu/news/head-he…

Head-to-Head Evaluation

Artificial intelligence model outperforms clinicians in diagnosing pediatric ear infections

hms.harvard.edu
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How do you capture discrete phenotype data in a busy clinical setting without leaving your EHR? #PheNominally! @jim_havrilla @IngoHelbig @hp_ontology @ChildrensPhila bmcmedinformdecismak.biomedc… Thanks to @evan_orenstein for the framework! – at New Jersey, USA

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

BMC Medical Informatics and Decision Making - Clinical phenotype information greatly facilitates genetic diagnostic interpretations pipelines in disease. While post-hoc extraction using natural...

link.springer.com
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