结合变异数据的基因组索引技术分析-analysis of genome indexing technology combined with variation data.docxVIP

AbstractGenome Mapping is a process of mapping the data that produced by high throughput sequencing technologies to human reference genome. Mapping system is the foundation of processing and analysis of biological data, has an important meaning to expression analysis and SNP site forecast. The index structure is an important part of the mapping system, is the foundation of the sequence alignment on a large scale.The main research goal is to improve existing mapping system index-building module, to design and provide an implementation of new index generation algorithm, to construct genome index structure combined with variation data.This paper firstly states the basic concepts of sequence alignment and Burrows-Wheeler Transform (BWT) data structure. Also the index content based onBWT structure is shown，An analysis and discussion of exact match algorithm isgiven, and illustration some important sorting algorithms involved with the index formation process. Then concept of absolute axis on genome is put forward introducing the Hapmap database mutation data. Presentation of index files creation principle of public part and variation part, including each part’s specific data storage formats. Detailed description of the public part’s conversion process to BWT sequence , and an analysis of variation part’s index data structure and content of every index file. Finally, systemic introduction of corresponding verification method respectively according to different index structure. Demonstration of the results of validation and the validity analysis. Each part’s relevant alignment strategy is shown for the technical support of subsequent sequence alignment process on large scale.In conclusion, original reference genome data and variation data are effectively combined in this paper, a new genome index structure with combination of variation data is established, BWT index building principle is explained, and this paper also develops a new perspective of designing mapping system i