CAJ | 학술논문

基于不同的测序技术,基因拷贝数变异的检测方法有多种,但时间复杂度较高,而新一代测序技术的发展为基因拷贝数变异检测的研究开辟了新领域. 通过仿真实验、置换检验设计出一种新的基于新一代测序的拷贝数变异检测算法. 不同于其它算法,本算法无需参考样本,通过直接研究比对后的序列以及reads与拷贝数的关系,来研究检测拷贝数变异,实验结果表明在时间复杂度上能提高50%以上的运算速度,这对今后拷贝数与疾病的研究具有重要意义.
기우불동적측서기술,기인고패수변이적검측방법유다충,단시간복잡도교고,이신일대측서기술적발전위기인고패수변이검측적연구개벽료신영역. 통과방진실험、치환검험설계출일충신적기우신일대측서적고패수변이검측산법. 불동우기타산법,본산법무수삼고양본,통과직접연구비대후적서렬이급reads여고패수적관계,래연구검측고패수변이,실험결과표명재시간복잡도상능제고50%이상적운산속도,저대금후고패수여질병적연구구유중요의의.
Based on different sequencing technologies, the detection methods of gene copy number variation are available. However, with the development of new generation sequencing technology, a new field for researchingcopy number variations has been opened up.Through the simulation experiment and the replacement test, this paper designs a new copy number variation detection algorithm based on the new generation of sequencing. Unlike other algorithms, our algorithm doesn' t need thereference samples, butuses the mapped datafrom next generation sequencing platforms and the relationship between reads and gene copy number to detect gene copy number variations in the genome. The experimental results show that the performance in time complexity can be improved by more than 50%, indicating the important significance for the further study of gene copy number and disease in the future.