A statistical test method for multiple-sample copy number consistent variation regions

Abstract

The invention discloses a statistical testing method of copy number consistency variation region in multiple samples. The method comprises the steps that a quasi synthetic curve is constructed based on the relation coefficients of the copy digital points, the derivative value of each digital point is calculated, significant derivative values are tested through the hypothesis test method, and a variable candidate region for the copy numbers is built from the determination of the breakpoint of the copy numbers; a hypothesized null distribution is constructed through the method of randomly replacing the CNVs on the two directions of the whole genome group and the samples, and the copy number consistency variable region in multiple samples is tested. According to the method, directly using the read number of sequence is avoided, certain sequence mistakes and noises can be accommodated, and a boundary of the variable region for the copy numbers can be relatively accurately located;based on the random replacements of the CNVs on the two directions of the whole genome group and the samples, compared to the replacements on a single direction, more real head distribution of the hypothesis test can be obtained by the method; meanwhile the test of the diversified consistency variable CNVs, namely, the variable region of the copy number consistency existed in multiple sample subclasses, is facilitated.

Description

technical field [0001] The invention belongs to the technical field of copy number variation, and in particular relates to a statistical testing method for the consistent variation region of copy number of multiple samples. Background technique [0002] Next-generation sequencing technology provides more comprehensive and richer genomic variation data, providing an important platform for in-depth understanding of life mechanisms and cancer cell development mechanisms. Copy number variation (CopyNumber Variation, CNV) is an important variation phenomenon in the genome, which is closely related to the occurrence and development of cancer. Therefore, the systematic analysis of CNV data on the next-generation sequencing platform provides an important way to discover cancer genes and study the molecular mechanism of cancer cells. Diverse CNV patterns were detected. Existing technical solutions: At present, experts at home and abroad have proposed different copy number variation...

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Problems solved by technology

[0004] The purpose of the present invention is to provide a statistical test method for the copy number consistent variation region of multiple samples, aiming at solving the problem that the statistical test method of the existing sample copy number consistent variation region is too dependent on the change in the number of sequencing reads, and it is difficult to obtain The detection effect of statistical significance; the sample size should not be too large, and the calculation complexity is high, which is not conducive to the detection of copy number consistent variation regions in multiple samples

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