#rare diseases

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Stories, products and papers tagged "rare diseases", newest first.
Nov 12
ModelsBuildersSelected20:35
AlphaGenome 2 podcast explores rare disease genetic diagnosis

Beyond the model itself, the episode shows how AI variant interpretation is moving from research demos toward clinical diagnostic workflows for rare diseases. Genomicists, computational biologists and rare disease patient foundations can use it to understand what the model does and where it falls short, straight from its creators. Compared with academic preprints, the conversational format makes the transformer-based architecture accessible to non-specialists.

Official accountGoogle DeepMind@GoogleDeepMindSource
Sep 8
Papers15:36
Chinese content罕见病护理中使用大语言模型聊天机器人

NEJM AI最新研究,罕见病家庭如何使用AI聊天机器人获取医疗信息,家长视角值得关注。

NEJM AI@Anna M. Kerr Christine Bereitschaft Stephanie Milam Theodore Marghitu Lindsay J. Blazin Rachael R. Schulte Melanie Bryan Sally Cohen-Cutler Min Zhao Aditi Gupta Albert M. Lai and Bryan A. SiskSource
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