Sammeth Michael, Stoye Jens
IEEE/ACM Trans Comput Biol Bioinform. 2006 Oct-Dec;3(4):395-407. doi: 10.1109/TCBB.2006.46.
Traditional sequence comparison by alignment employs a mutation model comprised of two events, substitutions and indels (insertions or deletions) of single positions. However, modern genetic analysis knows a variety of more complex mutation events (e.g., duplications, excisions, and rearrangements), especially regarding DNA. With ever more DNA sequence data becoming available, the need to accurately compare sequences which have clearly undergone more complicated types of mutational processes is becoming critical. Herein we introduce a new method for pairwise alignment and comparison of sequences with respect to the special evolution of tandem repeats: substitutions and indels of single positions and, additionally, duplications and excisions of variable degree (i.e., of one or more repeat copies simultaneously) are taken into account. To evaluate our method, we apply it to the spa VNTR (variable number of tandem repeats) cluster of Staphylococcus aureus, a bacterium of high medical importance.
传统的通过比对进行序列比较采用了一种由两个事件组成的突变模型,即单个位置的替换和插入缺失(插入或缺失)。然而,现代遗传分析了解多种更复杂的突变事件(例如,重复、切除和重排),尤其是在DNA方面。随着越来越多的DNA序列数据可用,准确比较明显经历了更复杂类型突变过程的序列的需求变得至关重要。在此,我们引入一种新方法,用于针对串联重复的特殊进化对序列进行成对比对和比较:考虑单个位置的替换和插入缺失,此外,还考虑不同程度的重复和切除(即同时一个或多个重复拷贝的重复和切除)。为了评估我们的方法,我们将其应用于金黄色葡萄球菌的spa VNTR(可变串联重复序列)簇,金黄色葡萄球菌是一种具有高度医学重要性的细菌。