Copy number variation detection preprocessing device, detection device, determination device and system

Abstract

The invention provides a preprocessing apparatus, a detection apparatus, an authenticity judgment apparatus and an authenticity judgment system used for performing copy number variation detection on a captured gene on a target region. The preprocessing apparatus is characterized by comprising a data standardization part, a gene relative copy number parameter calculation part and an exon relative copy number parameter calculation part, wherein the data standardization part performs standardization processing on correct comparison data to obtain standardized data; the gene relative copy number parameter calculation part performs calculation according to a predetermined gene calculation rule based on the standardized data to obtain a gene relative copy number parameter of the gene; and the exon relative copy number parameter calculation part calculates exons of the gene one by one according to a predetermined exon calculation rule based on the standardized data to obtain exon relative copy number parameters corresponding to the gene.

Description

technical field [0001] The invention belongs to the field of biological information, and in particular relates to a preprocessing device, a detection device, a true-false judging device and a system for detecting copy number variation of a gene in a captured target region. Background technique [0002] With the continuous improvement of human genome data and the reduction of the cost of next-generation sequencing, at the same time, there are more and more targeted drugs for tumor treatment, and the combination of next-generation sequencing technology with the promotion of precision medicine and tumor treatment is becoming more and more close. [0003] At present, research based on next-generation sequencing mainly focuses on solid tumor tissue sequencing, circulating tumor DNA sequencing, and single-cell sequencing, while solid tumor tissue sequencing uses targeted probes to capture target regions (small fragments / small panels) for sequencing , is currently the most widely ...

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Problems solved by technology

However, the above-mentioned methods all need to be fragmented, and the adjacent intervals with similar copy numbers are merged into a large fragment through a specific statistical algorithm, and the large fragment is detected, but there are too few genes sequenced by the small panel, and in The distance on the chromosome is very far, and the direct use of the above method will merge the two genes that are far away into one fragment. After this treatment, the significance of the characteristics of each gene in the small panel will be greatly reduced, which will affect the detection efficiency. Therefore, the above method cannot be applied to the detection of CNV

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