癌症基因组框内突变功能注释及计算方法比较分析

Comparative analysis of functional annotation and computational methods for in-frame InDels in cancer genome

  • 摘要: 框内突变是编码区插入缺失突变的一种常见类型,与癌症的发生发展密切相关。然而,计算方法在癌症驱动框内突变预测方面的有效性尚缺乏明确共识。首先,系统地比较和评估了8种计算方法,证实了它们在识别癌症驱动框内突变的适用性及可靠性。然后,选用其中4种表现优异的计算方法,进一步挖掘了癌症基因组中潜在的驱动框内突变,并探究了这些突变作为癌症驱动突变的合理性。最终,构建了一个用户访问友好、集成多种预测方法及注释信息的线上数据库dbCCID,旨在为研究人员提供便利。这些工作为癌症框内突变预测方法的选择和开发提供了理论支撑。

     

    Abstract: In-frame InDel is a common type of insertion and deletion mutations in coding regions, which are closely associated with the occurrence and development of cancer. However, there is currently a lack of clear consensus on the efficacy of computation methods for predicting cancer driver in-frame InDels. In this paper, eight computational methods are comprehensively and systematically compared and evaluated, confirming their applicability and reliability of these methods in identifying cancer driver in-frame InDels. Then, four computational methods with outstanding performance are selected to mine potential driver in-frame InDels in the cancer genome and explore the rationality of these mutations as cancer driver InDels. Finally, a user-friendly online database dbCCID that integrates multiple prediction methods and annotation information is constructed to create convenience for researchers. It is expected this work will provide a theoretical support for the selection and development of in-frame InDel prediction methods for cancer.

     

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