Department of Computer Science, Arignar Anna Government Arts College, Villupuram, Tamil Nadu, 605602, India.
Computer Science, Arignar Anna Government Arts College, Villupuram, Tamil Nadu, India.
Med Biol Eng Comput. 2021 Apr;59(4):733-758. doi: 10.1007/s11517-021-02343-9. Epub 2021 Apr 11.
Genome-wide association studies (GWAS) provide clear insight into understanding genetic variations and environmental influences responsible for various human diseases. Cancer identification through genetic interactions (epistasis) is one of the significant ongoing researches in GWAS. The growth of the cancer cell emerges from multi-locus as well as complex genetic interaction. It is impractical for the physician to detect cancer via manual examination of SNPs interaction. Due to its importance, several computational approaches have been modeled to infer epistasis effects. This article includes a comprehensive and multifaceted review of all relevant genetic studies published between 2001 and 2020. In this contemporary review, various computational methods are as follows: multifactor dimensionality reduction-based approaches, statistical strategies, machine learning, and optimization-based techniques are carefully reviewed and presented with their evaluation results. Moreover, these computational approaches' strengths and limitations are described. The issues behind the computational methods for identifying the cancer disease through genetic interactions and the various evaluation parameters used by researchers have been analyzed. This review is highly beneficial for researchers and medical professionals to learn techniques adapted to discover the epistasis and aids to design novel automatic epistasis detection systems with strong robustness and maximum efficiency to address the different research problems in finding practical solutions effectively.
全基因组关联研究(GWAS)为理解导致各种人类疾病的遗传变异和环境影响提供了清晰的认识。通过遗传相互作用(上位性)识别癌症是 GWAS 中正在进行的重要研究之一。癌细胞的生长来自多基因座和复杂的遗传相互作用。医生通过手动检查 SNP 相互作用来检测癌症是不切实际的。由于其重要性,已经建立了几种计算方法来推断上位性效应。本文对 2001 年至 2020 年期间发表的所有相关遗传研究进行了全面而多方面的综述。在这篇当代综述中,仔细回顾了各种计算方法:基于多因素降维的方法、统计策略、机器学习和基于优化的技术,并介绍了它们的评估结果。此外,还描述了这些计算方法的优缺点。分析了通过遗传相互作用识别癌症疾病的计算方法背后的问题以及研究人员使用的各种评估参数。本综述对研究人员和医疗专业人员非常有益,有助于他们学习适用于发现上位性的技术,并有助于设计具有强大鲁棒性和最高效率的新型自动上位性检测系统,以有效解决不同研究问题,找到实用解决方案。