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相关概念视频

Receiver Operating Characteristic Plot01:15

Receiver Operating Characteristic Plot

556
A ROC (Receiver Operating Characteristic) plot is a graphical tool used to assess the performance of a binary classification model by illustrating the trade-off between sensitivity (true positive rate) and specificity (false positive rate). By plotting sensitivity against 1 - specificity across various threshold settings, the ROC curve shows how well the model distinguishes between classes, with a curve closer to the top-left corner indicating a more accurate model. The area under the ROC curve...
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Sensitivity, Specificity, and Predicted Value01:13

Sensitivity, Specificity, and Predicted Value

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In healthcare diagnostics, laboratory tests play a crucial role in identifying and diagnosing a wide range of medical conditions. However, interpreting test results is not always straightforward. An abnormal test result does not always confirm the presence of a disease, just as a normal result does not guarantee its absence. To assess the reliability of these diagnostic tools, healthcare practitioners rely on two key statistical indicators: sensitivity and specificity.
Sensitivity is the...
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The Ras Gene02:38

The Ras Gene

7.4K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
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相关实验视频

Updated: Mar 13, 2026

Detection and Isolation of Cancer in Prostate Biopsies Using Stimulated Raman Histology and Artificial Intelligence
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在RASopathies中优化临床红旗的诊断准确性

Emanuele Bobbio1, Martina Caiazza1, Emanuele Monda1

  • 1Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Monaldi Hospital, Naples, Italy.

American journal of medical genetics. Part A
|March 11, 2026
PubMed
概括

拉索病是一种遗传性疾病. 肺狭窄和面部形是关键指标,促使早期对RASopathies进行遗传测试,并提高诊断准确性.

关键词:
在中午,中午.在 RAS 信号传输中.拉索病症是一种RAS病症.遗传学 遗传学 遗传学 是一个遗传性心脏病的情况.机器学习是机器学习.红色的旗 红色的旗

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相关实验视频

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科学领域:

  • 遗传学 遗传学 是一个
  • 心脏病学 心脏病学
  • 机器学习 机器学习

背景情况:

  • 拉索病是一种与RAS-MAPK通路相关的遗传性疾病,经常导致心脏缺陷和发育问题.
  • 准确的RAS病症诊断对于及时干预和管理至关重要.

研究的目的:

  • 在疑似RASopathy病例中评估基因检测的诊断产量.
  • 使用机器学习识别可预测RASopathy的临床红旗.

主要方法:

  • 在2020-2023年期间评估的669名患者的回顾性分析.
  • 对于疑似RASopathy病例的基因检测 (外体序列) 和心血管评估.
  • 机器学习 (随机森林) 用于13个临床红旗进行预测分析.

主要成果:

  • 在34例疑似病例 (24例确诊病例) 中,RAS病的诊断收益率为71% .
  • 肺狭窄症 (PVS) 和面部形状乱被确定为最强的预测因素.
  • 使用PVS和面部异形的模型实现了0.86.6的AUC.

结论:

  • PVS和面部异形是RASopathy诊断的关键指标,需要进行基因检测.
  • 机器学习有效地确定了RASopathies的关键临床预测因素.
  • 对于开发的ML模型,需要进一步的外部验证.