Variation hazard grading device and method and application thereof

• Main Authors: WANG JUAN, LI ZHIMIN, LIU YUNSHAN, DU YANG
• Format: Patent
• Language: Chinese; English
• Published: 23.06.2023
• Subjects: CALCULATING; COMPUTER SYSTEMS BASED ON SPECIFIC COMPUTATIONAL MODELS; COMPUTING; COUNTING; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; PHYSICS

The invention discloses a variation hazard grading device and method and application. The grading device comprises a first feature set and second feature set acquisition unit, a feature set link unit, a variation evaluation unit, a hazard grading unit and a result output unit. The grading device is a comprehensive evaluation tool, the application range of the grading device is wider than that of a single prediction model, more comprehensive and reasonable characteristics are used compared with Exomiser, an artificial intelligence algorithm (random forest/neural network) is used for modeling, and high accuracy and specificity are obtained. 本发明公开了一种变异危害性分级装置、方法以及应用，所述分级装置包括第一特征集和第二特征集获取单元、特征集链接单元、变异评价单元、危害分级单元和结果输出单元。所述分级装置是一种综合性评价工具，其比单一预测模型的适用范围更广，较之Exomiser使用了更为全面与合理的特征，并使用人工智能算法(随机森林/神经网络)进行建模，获得了较高的准确性和特异性。