Sequencing sequence mapping method and sequencing sequence mapping system

Abstract

The invention discloses a sequencing sequence mapping method and sequencing sequence mapping system. The method comprises the steps that pretreatment is performed on a reference genome so as to generate a reference genome compression structure, an address index structure and a halving point index structure; the reference genome compression structure stores the whole reference genome in a compression mode, the address index structure address stores address values of all subsequences in the reference genome based on a certain sequence, and the halving point index structure is used for storing positions, where part of the address values exists, in the address index structure and used for achieving initial positioning of a sequencing sequence in an acceleration mode; based on the characteristics of the reference genome, the whole information of the sequencing sequence and the polymorphic occurrence conditions of a belonged specie of the sequencing sequence, an algorithm parameter is mapped according to probabilistic design so that the requirements for sensitivity, specificity and a mapping speed can be met or compromised. The structure is obtained through pretreatment, all sequencing sequences are mapped on the reference genome through subsequence positioning, prolongation based on the self-matching function and the step of quantitative analysis.

Description

technical field [0001] The invention is applicable to the technical field of genetic engineering, and in particular relates to a method and system for rapid mapping of sequencing sequences and related quantitative analysis based on high-throughput sequencing technology. Background technique [0002] High-throughput DNA sequencing is the core technology for realizing individualized medicine and conducting modern molecular biology research. In personalized medicine, high-throughput DNA sequencing can obtain qualitative and quantitative information of a person's whole genome, expression group, and various regulatory molecules, and can comprehensively utilize polymorphism and variation information in genetic sequences, functional genomics The expression information in the cell can realize disease diagnosis and disease risk prediction at the molecular level, so as to better treat or prevent it. In particular, we can predict the degree of influence of drugs on an individual based...

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Problems solved by technology

[0018] 4. The system is modular

[0022] In addition, quantitative analysis of sequencing sequence mapping is essential for scientific research based on next-generation sequencing technology. At present, except for MAQ, a sequence mapping tool that provides simple quantitative analysis, other mapping tools lack parameter design guidelines and mapping rates. , the evaluation of accuracy

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