@phenomizer

Differential diagnostic tool for human genetics based on semantic similarity computed with the HPO

 Berlin, Germany
compbio.charite.de/phenomizer/
Joined June 2015
  • Tweets95
  • Following22
  • Followers235
Stephen Kingsmore giving a shoutout to @phenomizer . 🥳
Peter Robinson@pnrobins3 Mar 2022
Phenomizer is still going strong 13 years later! see: molecularcasestudies.cshlp.o…
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Replying to @phenomizer
@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
Dr. Sebastian Köhler@drseb_7 Dec 2021
Phenomizer is now working again! @phenomizer @hp_ontology
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Phenomizer is now working again! @phenomizer @hp_ontology
Dr. Sebastian Köhler@drseb_2 Dec 2021
Thanks to Marten the server is up again, but some component of @phenomizer is not configured correctly. We‘re on it… @hp_ontology
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Replying to @phenomizer
We miss you, @phenomizer
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Thanks to Marten the server is up again, but some component of @phenomizer is not configured correctly. We‘re on it… @hp_ontology
Peter Robinson@pnrobins1 Dec 2021
Thanks to Marten Jaeger, the Phenomizer is back online @hp_ontology @MonarchInit compbio.charite.de/phenomize…
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Replying to @csoares_mdphd @hp_ontology @phenomizer
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 🤗)
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Sorry, no new information on the status of Phenomizer. I know that 1 person at Charite is trying to bring the server back to life, but unsure if/when this is going to happen. We try to find a server + some money for software dev. to find a more sustainable solution in the future.
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Great team! @MonarchInit #phenomicsfirst
HPO@hp_ontology8 Jun 2021
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
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Cool. @hp_ontology used as well in this rare disease project in 🇸🇪. Probably also @phenomizer (which is integrated in the software ‚scout‘)
Karolinska Institutet@karolinskainst17 Mar 2021
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
Photo of DNA sequencing by Getty Images.

ALT Photo of DNA sequencing by Getty Images.

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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
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If anyone has resources to share or knows someone who could be interested in helping, please let us know. @hp_ontology @drseb_
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Sadly,the wrong charite-professor got our old server and wants to convert a server with 32 cpus & 128GB ram into a file-server 🙄. This was the server where Phenomizer was running 🙁. This means that Phenomizer will be down soon. We hope to find a new place asap! @hp_ontology
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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
HPO@hp_ontology3 Dec 2020
Our latest article now available at NAR: academic.oup.com/nar/advance…
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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
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Latest news on HPO now published!
HPO@hp_ontology3 Dec 2020
Our latest article now available at NAR: academic.oup.com/nar/advance…
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Phenomizer retweeted
Ehud Banne@ehudbanne29 Sep 2020
Very nice! I use @phenomizer for my @hp_ontology and it’s so easy. Highly recommended. #genetics @ashg @eshg.
AJHG@AJHGNews26 Aug 2020
New! Galer et al. explore phenotypic diversity of epileptic encephalopathies through the lens of semantic similarity #HPO bit.ly/31uXPeQ

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and...

More than 100 genetic etiologies have been identified in developmental and epileptic encephalopathies (DEEs), but correlating genetic findings with clinical features at scale has remained a hurdle...

cell.com
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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
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Phenomizer retweeted
HPO@hp_ontology11 Aug 2020
New HPO release for August 2020 now out. Thanks to whole community for the support! #openscience #openstandards #freestandards #obo
Dr. Sebastian Köhler@drseb_11 Aug 2020
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
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Phenomizer retweeted
HPO@hp_ontology27 Mar 2020
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!
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Replying to @hp_ontology
@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!

GitHub - pryzm-health-org/covid19-data: Annotated data on COVID-19

Annotated data on COVID-19. Contribute to pryzm-health-org/covid19-data development by creating an account on GitHub.

github.com
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