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  1. Prikvačeni tweet
    15. kol 2019.

    Hey there scitwitter: Check out Melissa's great talk today at NHGRI about how to advance computational genomics and phenomics.

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  2. proslijedio/la je Tweet
    31. sij

    We are hiring! Are you our ideal candidate? Scientific --> --> Join our team: Translational and Integrative Sciences Lab

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  3. proslijedio/la je Tweet
    9. sij
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  4. proslijedio/la je Tweet
    19. pro 2019.

    any HPO-based phenotypic annotation aids variant discovery and that annotation with over five terms is recommended in our context.

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  5. 19. pro 2019.

    This study got good results by using Exomiser (Monarch's exome variant prioritization tool) to rank candidate variants while varying phenotypic annotation.

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  6. proslijedio/la je Tweet
    13. pro 2019.

    . on the problem of how rare diseases are characterized and defined, the challenge of harmonizing definitions, and why it’s critical for making progress in diagnosing and treating these conditions

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  7. proslijedio/la je Tweet
    13. pro 2019.

    Thank you for this precious info! is an too! Happy to see such powerful energy n collaboration across different “stakeholders” in 👍

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  8. 12. pro 2019.

    See p. 2 of the IRDiRC newsletter for a short article about the Exomiser, a Monarch product and an IRDiRC Recognized Resource.

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  9. proslijedio/la je Tweet

    📆 Join us at the joint 2020 in Berlin 🇩🇪 to discuss cutting-edge R&I policy on orphan & . Early bird registration has been extended until Dec 20, sign up here 👉

    , , i još njih 7
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  10. 23. stu 2019.

    A new solution to the problem: scientists from call for a coordinated effort to better define rare diseases so that clinicians can effectively diagnose and treat patients.

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

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

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  14. 12. stu 2019.

    Monarch update published in Nucleic Acids Research:

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  15. proslijedio/la je Tweet
    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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  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. 29. lis 2019.

    Happy that our Phenopackets data-sharing standards is one of those just approved by !

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  18. 23. lis 2019.

    GA4GH Approves Phenopackets Data-Exchange Standard:

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  19. proslijedio/la je Tweet
    22. lis 2019.
    Odgovor korisnicima

    is currently focused on of case-level data for clinical applications, but the model is applicable to any organism. The is interested in it for mice for example. We welcome contributors and new use cases!

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

    Phenopackets provides an electronic format for exchanging phenotypic information alongside genomic data. Learn more in this short comic:

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  21. proslijedio/la je Tweet
    22. lis 2019.

    Melissa Haendel (, ) shares about the recently approved Phenopackets. Read about on the GA4GH website:

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