基于长读数和重比对的倒位变异检测方法.

Structural variation detection is an important task of genome big data analysis. Inversion is a common structural variation and is often associated with a variety of serious diseases. Therefore, obtaining the accurate position of inversion is an important task. This paper proposed a method for detecting inversions variation based on long reads and realignment. This method firstly extracted the clipped sequence of each long read, and aligned them against the genome reference sequence . Based on the original alignment information and the realignment information, this method determined the inversion signals. Finally, it clustered the inversion signals to determine the location of the inversions. The performance of this method and the other two common inversion variation detection methods were compared on two datasets. The experimental results show that this method can obtain more satisfactory detection results. [ABSTRACT FROM AUTHOR]