基于PEM的基因组结构变异检测方法

Methods for detecting genome structural variation based on PEM

结构变异普遍存在于人类基因组中,与人类的健康和疾病息息相关,目前基因组结构变异检测方法层出不穷,其中基于双末端映射的检测方法发展尤为迅速.本文将这类主流的检测方法加以分类并进行了详细论述与分析,对更精准的基因组结构变异检测技术的研发具有指导意义.将多种检测方法有机结合共同应用于结构变异的检测,是结构变异检测技术一个未来发展趋势.

Genome structural variation is ubiquitous among individuals and closely related to human health and disease. In recent years, a substantial number of methods for discovering structural varia- tion have sprung up, among which techniques based on paired-end mapping have developed especially rapidly. These state-of-the-art methods are classified into several categories and the detailed analysis and discussion are carried on, which have great significance for the research of structural variation de- tection technology. It should be a future trend to develop an approach that is organic combination of multi-class methods to structural variation detection process.