Differential diagnostic tool for human genetics based on semantic similarity computed with the HPO
Berlin, Germany
Joined June 2015
- Tweets95
- Following22
- Followers235
- Likes109
Phenomizer retweeted
Stephen Kingsmore giving a shoutout to @phenomizer . 🥳
Phenomizer retweeted
@phenomizer is back!!!🎉 Thank you, from a genetics residency program director who loves using this as a teaching resource! (And using it myself to help craft a differential when seeing patients!)
compbio.charite.de/phenomize… – at Birmingham, AL
Phenomizer retweeted
Phenomizer is now working again! @phenomizer @hp_ontology
Thanks to Marten the server is up again, but some component of @phenomizer is not configured correctly. We‘re on it… @hp_ontology
Phenomizer retweeted
Thanks to Marten the server is up again, but some component of @phenomizer is not configured correctly. We‘re on it… @hp_ontology
Thanks to Marten Jaeger, the Phenomizer is back online @hp_ontology @MonarchInit
compbio.charite.de/phenomize…
Phenomizer retweeted
I am so sorry about this. There is not much I can do at the moment. You might try to find the right people at charite that decided this. (Or maybe find a sponsor 🤗)
Phenomizer retweeted
Great team! @MonarchInit #phenomicsfirst
HPO release for June 2021 is out. Almost 200 new terms and lots of improvements. Get it here hpo.jax.org/app/ and see the announcement here: groups.io/g/human-phenotype-…
#openstandards #Ontology #OpenScience #DigitalHealth
Phenomizer retweeted
Cool. @hp_ontology used as well in this rare disease project in 🇸🇪. Probably also @phenomizer (which is integrated in the software ‚scout‘)
Over 1,200 with rare diseases received a diagnosis thanks to the integration of large-scale genomics into Stockholm's healthcare system, constituting a major leap forward in the emerging field of #precisionmedicine. Results out in @GenomeMedicine.
bit.ly/3qWQIFv
ALT Photo of DNA sequencing by Getty Images.
Phenomizer retweeted
February 2021 release of @hp_ontology now out. 279 new terms. Please read this: groups.io/g/human-phenotype-… . Some URLs won’t work soon. Always use PURLs. @MonarchInit #openstandards #freestandards #digitalhealth
Phenomizer retweeted
Please check out the latest article on the evolution of @hp_ontology as we near 2021. Thanks to @pnrobins @drseb_ for letting me pitch in over the last few years, specifically on the approach to drug metabolism phenotypes. @emedgene
Phenomizer retweeted
We are happy to announce the December 2021 release of @hp_ontology . More information is available at: groups.io/g/human-phenotype-…
@MonarchInit @pnrobins #freestandards #OpenScience
Phenomizer retweeted
Very nice! I use @phenomizer for my @hp_ontology and it’s so easy. Highly recommended. #genetics @ashg @eshg.
New! Galer et al. explore phenotypic diversity of epileptic encephalopathies through the lens of semantic similarity #HPO
bit.ly/31uXPeQ
Phenomizer retweeted
We have just made a new release of @hp_ontology and the associated resources. See announcement here: groups.io/g/human-phenotype-…
Thanks to the whole community for the feedback and contributions!
#openscience #openstandards #freestandards
Phenomizer retweeted
New HPO release for August 2020 now out.
Thanks to whole community for the support!
#openscience #openstandards #freestandards #obo
We have just made a new release of @hp_ontology and the associated resources. See announcement here: groups.io/g/human-phenotype-…
Thanks to the whole community for the feedback and contributions!
#openscience #openstandards #freestandards
Phenomizer retweeted
New March 2020 release aka the Epilepsome release. See groups.io/g/human-phenotype-… for more details. Thanks to @IngoHelbig @pnrobins @NicoMatentzoglu @N_Vasilevsky @drseb_ et al.
Stay safe wherever you are!
Phenomizer retweeted
@hp_ontology annotations for COVID-19 abstracts: github.com/pryzm-health-org/…
Let us know if important clinical features are missing in HPO - we will add them and make releases early. Thanks!
Phenomizer retweeted
New HPO release now out. We call it the #RareDiseaseDay -release. See the announcement on @hp_ontology mailinglist: groups.io/g/human-phenotype-…
We hope you like it
Phenomizer retweeted
They write on @phenomizer : „For example, he and his colleagues use the "Phenomizer" regularly. The Phenomizer has often helped them to find a diagnosis in complex situations, said Schäfer. "The tool should be part of the "standard programme" in every rare disease centre...“ 👍🏻
Phenomizer retweeted
German article about the RD FOP. I got interviewed about tools like @phenomizer that use @hp_ontology . Rare disease day is coming soon! web.de/magazine/wissen/mensc…
Phenomizer retweeted
@Tagesspiegel berichtet heute über das Potenzial digitaler Lösungen wie Ada im Bereich der Seltenen Erkrankungen. Übrigens: Der zitierte @drseb_ ist inzwischen bei @adahealth_de tätig.
