@DisGeNET

Knowledge platform on human diseases and their genes

 IBI group, BCN
disgenet.org
Joined November 2014
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  • Followers438
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UniProt, the reference resource for proteins, provides links to DISGENET plus. Links to DISGENET plus information on diseases associated with human genes are available to UniProt/SwissProt human protein entries. uniprot.org/ disgenetplus.com/
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🗣️New release of DISGENET plus (v23) 🐁New data source: Mouse Genome Database 🧬10% increase in the number of GDAs: more than 175K new GDAs available ⚕️2.5K new diseases and phenotypes incorporated into the database 👉🏽More info at disgenetplus.com/
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🗣️Check out our new article! Visualization of automatically combined #diseasemaps and #pathway diagrams for #rarediseases doi.org/10.3389/fbinf.2023.1… gitlab.lcsb.uni.lu/minerva/a…
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🗣️New release of DISGENET plus (v22) 🧬New associations: more than 40K new GDAs and VDAs in the DB 🧪New search functionalities for chemicals in the web and the REST API ⚕️New semantic relations between diseases 👉🏽To learn more about the new features: disgenetplus.com
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Due to infrastructure issues at the university, the service is not running since early today, it will be resumed in the next hours. Apologies for any inconvenience.
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The server is up and running again, thank you for your patience 😊
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@DisGeNET @pharmgkb #Biocuration #Ontologies #Bioinformatics
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Thorough review and recommended best practices for leveraging human genetics to improve drug safety assessment #drugsafety #Genetics #drugdevelopment #targetvalidation
Keren Carss@kerencarss20 Oct 2022
I am very happy to share our review article “Using Human Genetics to Improve Safety Assessment of Therapeutics”, now published in @NatRevDrugDisc. 🧵 nature.com/articles/s41573-0…

Using human genetics to improve safety assessment of therapeutics

Nature Reviews Drug Discovery - Studies of human genetics have been used to identify promising drug targets, and might also inform safety assessment in the drug discovery process. In their Review,...

nature.com
👉🏽 Check our new post on genetic support for FDA drug approvals in 2021 🧬DISGENET plus has genetic support for 90% of FDA drug approvals in 2021 📚This surpasses publicly available resources, which support 66% of drug approvals #drugefficacy #Genetics medbioinformatics.com/geneti…
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The services have been restored and the web interface is online again for all the operating systems.
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We are experiencing accessing problems from Windows. We are working to solve this issue, apologies for any inconvenience.
The ELIXIR Interoperability Platform updates by co-lead @SusannaASansone on the Interoperability FAIR services framework
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DisGeNET retweeted
reactome@reactome22 Mar 2022
We are happy to introduce you to our latest feature, the @DisGeNET overlay! Now, you will be able to display directly within PathwayBrowser all the diseases a specific protein has been shown to be associated with!
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Come and join us at #4YFN22 #MWC22 @TransferUPF
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Looking for a job in #bioinformatics? we have four positions open at GRIB: 👉2 postdocs on #machinelearning 👉Manager assistant on research projects 👉Technical position for platform @DisGeNET Read the details grib.imim.es/job-opportuniti… @IMIM_research @UPFBarcelona @the_prbb @bib
Sunrise at the PRBB

ALT Sunrise at the PRBB

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The amazing Ferran Sanz presenting ⁦@DisGeNET⁩ at the ⁦@UPFbiomed⁩ meeting. A presential, lively meeting.
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Diversity and molecular network patterns of symptom phenotypes nature.com/articles/s41540-0…
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Frustrated when things don't work together? 🧩😫 #Software, #data & even #datastandards can differ b/w resources, making it hard to streamline #dataanalysis. 'Recommended interoperability resources' are our list of resources overcoming this problem. bit.ly/2KSjAPg
BridgeDb is @[email protected]@BridgeDbProject23 Nov 2021
BridgeDb is a @ELIXIREurope Recommended Interoperability Resources (RIR) and a service of the Interoperability Platform. The purpose of RIRs are to make other tools together easier #ELIXIRRIR
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New! Users can now download the variant-disease associations in DisGeNET as gmt files. See more here: disgenet.org/downloads#secti…
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Do you know that @DisGeNET provides different metrics to explore and filter the data? 👉🏽 Check out this interesting meta-analysis on transcriptomic data on Down Syndrome by @maradierssen et al as an example of using our Disease Pleiotropy Index (DPI)
Mara Dierssen@maradierssen28 Sep 2021
Replying to @maradierssen
Brilliant work from @ilariodetoma and @CesarSierraN, at the @CRGenomica! that also produced two useful tools that we made freely available to the scientific community: ilariodetoma.shinyapps.io/sh… github.com/Ilarius/metaDEA Thank you also to @FondLejeune for their continued support!
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