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#raredisease — Public Fediverse posts

Live and recent posts from across the Fediverse tagged #raredisease, aggregated by home.social.

  1. "AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" doi.org/10.37044/osf.io/e5g6s_

    #biohackathon #ai #MHA26 #rareDisease

    'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." index.biohackrxiv.org/2026/09/

  2. "AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" doi.org/10.37044/osf.io/e5g6s_

    #biohackathon #ai #MHA26 #rareDisease

    'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." index.biohackrxiv.org/2026/09/

  3. "AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" doi.org/10.37044/osf.io/e5g6s_

    #biohackathon #ai #MHA26 #rareDisease

    'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." index.biohackrxiv.org/2026/09/

  4. "AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" doi.org/10.37044/osf.io/e5g6s_

    #biohackathon #ai #MHA26 #rareDisease

    'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." index.biohackrxiv.org/2026/09/

  5. "AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" doi.org/10.37044/osf.io/e5g6s_

    #biohackathon #ai #MHA26 #rareDisease

    'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." index.biohackrxiv.org/2026/09/

  6. DATE: November 07, 2025 at 05:00PM
    SOURCE: BioWorld MedTech

    Direct article link at end of text block below.

    UK’s @MHRAgovuk eyes #RareDisease framework for #therapeutic products

    t.co/FMkePThQ8s

    #medtech

    Here are any URLs found in the article text:

    t.co/FMkePThQ8s

    #medtech

    Articles can be found by scrolling down the page at bioworld.com/topics/85-bioworl .

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    #healthcare #healthtech #healthcaretech #healthtechnology #medgadget #medicine #doctor #hospital #medtech

  7. Catch up with the latest and greatest #DiseaseModelling research: Our latest issue is now complete!

    It features:
    👩‍🔬Editorial on #WomenInSTEM
    🧬Perspective and Reviews on the power and promise of genetics, from precise #GenomeEditing to the need for #inclusion to ensure the success of #SickleCell #GeneTherapy
    🧪Excellent #DiseaseBiology Research & Resource articles, from drug discovery for #malaria to #RareDisease modelling.
    All #OpenAccess!

    📘journals.biologists.com/dmm/is