HPO

@hp_ontology

Human Phenotype Ontology ; the free and open standard for deep phenotyping in precision medicine, genomics, and rare diseases.

Berlin, Germany
Vrijeme pridruživanja: lipanj 2015.

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  1. proslijedio/la je Tweet
    23. sij

    Using derived phenotypes, encoded in , you can characterize the similarity between seizure patients with specific genetic variants over time, visualized as a 2-dimensional phenotype

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  2. proslijedio/la je Tweet
    19. pro 2019.

    Eine standardisierte Sprache zur Symptombeschreibung () hilft dem Glück auf die Sprünge und ermöglicht schnellere von .👏👏👏 Wie künstliche Intelligenz seltene Krankheiten erkennt

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  3. proslijedio/la je Tweet

    Oft vergehen Jahre, bis Patienten mit einer seltenen Krankheit eine Diagnose bekommen. Intelligente Software kann Ärzten helfen, aus den Symptomen schneller die richtigen Schlüsse zu ziehen – und Menschen retten. Ein Text von .

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  4. proslijedio/la je Tweet
    16. pro 2019.

    Invited lecture introducing Human Phenotype Ontology at the medical term committee in the Japan Medical Association.

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  5. proslijedio/la je Tweet
    11. pro 2019.

    More HPO terms —> higher diagnostic yield. Deep phenotyping! Open standards developed by the community world-wide.

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  6. proslijedio/la je Tweet
    27. stu 2019.

    Behind is a powerful structured and standardized language for describing phenotypes, . Discover how the HPO guides diagnoses and how can harness its power in this Current Protocols in Human Genetics paper

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  7. proslijedio/la je Tweet

    Our paper is finally out. Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery

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  8. proslijedio/la je Tweet
    15. stu 2019.

    We are so happy to have received a funding award from to improve tooling for management! was selected for funding alongside widely-used, open-source libraries such as , so we're truly honored to have made the cut.

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  9. proslijedio/la je Tweet
    14. stu 2019.

    Check out our new preprint on predicting phenotypes for loss of function mutations in human genes

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  10. proslijedio/la je Tweet
    13. stu 2019.

    Honored to present a keynote at “Born reusable: data in harmony to realize the Dream of AI” slides at

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  11. proslijedio/la je Tweet
    12. stu 2019.

    Monarch update published in Nucleic Acids Research:

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  12. proslijedio/la je Tweet
    8. stu 2019.

    used to investigate phenotypes associated with genes encoding drug targets. Theses phenotypes can be predictive for side effects. : same true when using model organism phenotypes?

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  13. 8. stu 2019.

    November 2019 release of HPO. 80 new diseases, 2000 new diseases annotation, 1500 logical definitions assigned to DOSDP. Thanks to all our users for the support and help!

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  14. proslijedio/la je Tweet
    6. stu 2019.

    highlighting the impoartance of having good phenotypic details on patients: “Greater HPO characterisation resulted in enhanced diagnostic yield”

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  15. proslijedio/la je Tweet
    5. stu 2019.

    Call for harmonised disease definitions for rare diseases: Globally. IMHO, best done using open and free standards!

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  16. proslijedio/la je Tweet
    5. stu 2019.

    How many are there? Aligning knowledge sources suggests we are grossly underestimating; we need to harmonize definitions!

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  17. proslijedio/la je Tweet
    Odgovor korisniku/ci

    To extract unified concepts from notes, biopsy reports, and radiology reports, I'd use Human Phenotype Ontology. Has the most unified and well-curated concepts compared any other -omics also endorses

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  18. proslijedio/la je Tweet
    23. lis 2019.

    GA4GH Approves Phenopackets Data-Exchange Standard:

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  19. proslijedio/la je Tweet
    22. lis 2019.
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  20. proslijedio/la je Tweet
    16. lis 2019.

    My team and I are proud: is now 100% German! (alpha version) Now checking/revising everything and hopefully releasing beta soon... (Note: Spanish and Turkish are already done)

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