Targeted sequencing data simulation method and device based on NGS

Abstract

The invention discloses a targeted sequencing data simulation method and device based on NGS. The method comprises the steps that multiple target area bins corresponding to a simulation sequencing depth data set which needs to be generated are determined, wherein the simulation sequencing depth data set comprises a sequencing depth simulated by each bin in multiple bins; an expectation value of the simulation sequencing depth data set is determined; a normal-distribution first random number with the expectation value as an average value and a preset variance as a variance is generated, whereinthe preset variance is a variance pre-determined according to an actual sample; multiple Poisson-distribution second random numbers with the first random number as an average value and a variance aregenerated; according to multiple adjustment parameters, the second random numbers are adjusted separately, and the simulation sequencing depth data set is generated. According to the targeted sequencing data simulation method and device based on NGS, the technical problem is solved that in the prior art, since simulated sequencing sequential data needs to be generated, the consumed time for detecting CNV is long, and the large storage space is occupied.

Description

technical field [0001] The present invention relates to the field of data processing, in particular to an NGS-based targeted sequencing data simulation method and device. Background technique [0002] Copy number variation (CNV) is an important part of genome structural variation and one of the important pathogenic factors of human diseases. Currently, the methods used for CNV research include: array-based comparative genomic hybridization (ACGH for short), SNP genotyping chip technology and next-generation sequencing (NGS). Among NGS methods, CNV detection based on read depth is the most widely used method, which is based on the assumption that the copy number is directly proportional to the number of sequencing fragments (reads). [0003] When sequencing through NGS technology, the data that needs to be used is massive. The existing public data and actual data are not enough to adjust and optimize the software. In order to obtain these massive data, different types of dat...

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Problems solved by technology

[0006] The embodiment of the present invention provides a method and device for simulating targeted sequencing data based on NGS, so as to at least solve the techni

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