#raredisease — Public Fediverse posts

"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1

#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." https://index.biohackrxiv.org/2026/09/04/e5g6s.html

"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1

#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." https://index.biohackrxiv.org/2026/09/04/e5g6s.html

"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1

#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." https://index.biohackrxiv.org/2026/09/04/e5g6s.html

"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1

#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." https://index.biohackrxiv.org/2026/09/04/e5g6s.html

"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1

#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." https://index.biohackrxiv.org/2026/09/04/e5g6s.html

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

https://t.co/FMkePThQ8s

#medtech

Here are any URLs found in the article text:

https://t.co/FMkePThQ8s

#medtech

Articles can be found by scrolling down the page at https://www.bioworld.com/topics/85-bioworld-medtech .

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

Microsoft explores AI assistant for diagnosing rare diseases

https://web.brid.gy/r/https://nerds.xyz/2025/09/microsoft-ai-assistant-diagnosing-rare-diseases/

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!

📘https://journals.biologists.com/dmm/issue/16/2

I will toot also in English on:
#genetics
#genomediting
#CRISPR
#genome
#geneexpression
#development
#embryo
#animalmodels
#RareDisease
#albinism
#retina
#vision
#pigmentation
#melanin
#geneticdiagnose
#ethics
#bioethics
#researchintegrity
#scientificpublication
#education
#popularscience
#sciencepolicy
#evaluation
#researchmanagement
#mentoring
#integration
#solidarity
#patients