Phenomizer

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

[Dr. Sebastian Köhler @drseb_]

Stephen Kingsmore giving a shoutout to @phenomizer . 🥳

[Anna C.E. Hurst, MD @acedens]

@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!)

https://t.co/5FG1DH9oqg

[Dr. Sebastian Köhler @drseb_]

Phenomizer is now working again! @phenomizer @hp_ontology

[Anna C.E. Hurst, MD @acedens]

@phenomizer We miss you, @phenomizer

[Dr. Sebastian Köhler @drseb_]

Thanks to Marten the server is up again, but some component of @phenomizer is not configured correctly. We‘re on it… @hp_ontology

[Phenomizer @phenomizer]

@tyrekecorrea Servers breaks, aren’t updated, are reused for other things… many possibilities. 😞

[Phenomizer @phenomizer]

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.

[Phenomizer @phenomizer]

@tyrekecorrea Yes. Server inactive.

[Dr. Sebastian Köhler @drseb_]

@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 🤗)

[Dr. Sebastian Köhler @drseb_]

Great team! @MonarchInit #phenomicsfirst

[Dr. Sebastian Köhler @drseb_]

Cool. @hp_ontology used as well in this rare disease project in 🇸🇪. Probably also @phenomizer (which is integrated in the software ‚scout‘)

[Phenomizer @phenomizer]

@tyrekecorrea @ehudbanne @hp_ontology @ashG @ESHG Thanks. We are currently working on improving the situation

[Phenomizer @phenomizer]

@tyrekecorrea Thanks for your feedback. Phenomizer is heavily underfunded, but we are working on improving the situation

[Dr. Sebastian Köhler @drseb_]

February 2021 release of @hp_ontology now out. 279 new terms. Please read this: https://t.co/CYreb85DaK . Some URLs won’t work soon. Always use PURLs. @MonarchInit #openstandards #freestandards #digitalhealth

[Phenomizer @phenomizer]

@KrawitzPeter Thanks. Genetics community rocks! #phenomizerwillnotdie

[Phenomizer @phenomizer]

If anyone has resources to share or knows someone who could be interested in helping, please let us know. @hp_ontology @drseb_

[Phenomizer @phenomizer]

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

[Tomer Talmy M.D. @talmymd]

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

[Dr. Sebastian Köhler @drseb_]

We are happy to announce the December 2021 release of @hp_ontology . More information is available at: https://t.co/UaHGvXQQaX
@MonarchInit @pnrobins #freestandards #OpenScience

[Phenomizer @phenomizer]

Latest news on HPO now published!

[HPO @hp_ontology]

Our latest article now available at NAR: https://t.co/A0tXTPlFuk