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Updated: Jun 30, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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通过使用生成人工智能创建的图像学习后识别遗传条件

Rebekah L Waikel1, Amna A Othman1, Tanviben Patel1

  • 1Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.

JAMA network open
|March 15, 2024
PubMed
概括

真实和人工智能生成的图像提高了儿科住院人员识别卡布基综合征 (KS) 和努南综合征 (NS) 的能力. 真实图像是最有效的,但人工智能图像也显示出对罕见遗传疾病的希望.

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