Method for rapidly detecting human genome single base mutation and micro-insertion deletion

Abstract

The invention provides a method for rapidly detecting human genome single base mutation and micro-insertion deletion. The method is a feasible method for rapidly detecting single base mutation and micro-insertion deletion from a human genome DNA sequencing result. According to the invention, a human reference genome sequence is scientifically and effectively split into small sub reference sequence blocks; almost all steps (including steps with relatively long analysis time) of human resequencing are divided into sub task blocks with greatly reduced computational complexity, wherein the sub task blocks do not influence each other; polymorphism information obtained from the sub reference sequence blocks is subjected to redundancy-removing, correction and filtering, such that the polymorphism information needed by an original human resequencing process is obtained. With the method provided by the invention, a problem of long human resequencing biological information analysis time is solved, and a novel analysis mode is created.

Description

technical field [0001] The invention relates to the field of biomedical data analysis, in particular to a method for ultra-fast detection of single-base mutations and micro-indels in human genome. Background technique [0002] Genes are the material basis of heredity. Genes play an important role in all life activities of living organisms (birth, old age, sickness and death). With the successful completion of the Human Genome Project, the International Haplotype Project, and the Thousand Genomes Project, especially the rapid development and maturity of high-throughput sequencing technology (High Through-put Sequencing), more and more genetic polymorphisms The relationship between loci (mainly single base mutations and micro-indels) and disease and health has been discovered one after another. At present, people can already sequence and analyze the human genome at a relatively low price, and obtain the genotype of these polymorphic sites of the individual at the genome-wide ...

AI Technical Summary

Problems solved by technology

[0006] In order to overcome the deficiencies of the above-mentioned prior art, the present invention proposes an ultra-fast method for detecting single-base mutations and micro-indels in the human genome. This method scientifically and ingeniously segments the human genome reference sequence, and analyzes the results of human resequencing analysis. The overall goal is to search for genomic polymorphism events in the human genome reference sequence with a size of 3G serially or partially in parallel, to analyze in parallel from each mergeable small block of the reference sequence, and finally by removing redundant Residue and distortion information, so as to obtain polymorphism information at the genome level (mainly single-base mutation and micro-indel information)

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