New generation sequencing copy number variation simulation method based on state transition model

Abstract

The invention discloses a new generation sequencing copy number variation simulation method based on a state transition model. The method comprises the steps that a copy number variation simulation algorithm is adopted; the state transition model is added to the simulation algorithm, and after the variation simulation, a sequence generation part is added; the copy number variation comprises germ cell copy number variation and somatic cell copy number variation; a Profile file based on an Illumina sequencing platform is generated; an ASCii code of a reads declarative part of an fq file is converted to a quality value of a basic group, and the corresponding method is that 33 is subtracted from the ASCii code of a corresponding character; the fa file obtained after the variation simulation and the generated profile file serve as input, and a read length is set, and multi-thread and sequence generation algorithms are used for generating and outputting the final fq file. According to the new generation sequencing copy number variation simulation method based on the state transition model, the biological variation simulation is more credible, the functions are complete and the data is true.

Description

technical field [0001] The invention belongs to the technical field of copy number variation, and in particular relates to a simulation method for copy number variation of next-generation sequencing based on a state transition model. Background technique [0002] Copy number variation is caused by rearrangement of the genome, generally refers to the increase or decrease of the copy number of large genome fragments with a length of more than 1kb, mainly manifested as deletion and insertion at the submicroscopic level. Copy number variation is an important part of genome structural variation (SV), and its site mutation rate is much higher than that of SNP (Single nucleotide polymorphism), which is one of the important pathogenic factors of human diseases. According to different places of occurrence, copy number variation can be divided into germ cell copy number variation (CNV) and somatic copy number variation (Copy number alteration, CNA). cell. CNVs have genetic effects, ...

AI Technical Summary

Problems solved by technology

[0004] The purpose of the present invention is to provide a next-generation sequencing copy number variation simulation method based on a state transition model, aiming at solving the problem of providing suitable simulation data for copy number variation detection

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