Copy number variation detection apparatus

Abstract

The invention relates to a copy number variation detection apparatus, which is high in detection sensitivity. The copy number variation detection apparatus comprises a sequence comparison module, an early stage data processing module, a normalization module, a background library screening module, a data fluctuation elimination module, a GC correction module, a CNV region prejudgment module, a CNVregion breakpoint determination module, a CNV region screening module and an output module.

Description

technical field [0001] The invention belongs to the field of molecular biology detection, and in particular relates to a copy number variation detection device and a detection method. Background technique [0002] Gene copy number variation (Copy Number Variation, CNV) is a very important structural variation in clinical practice, which is related to the prognosis of various tumors and the sensitivity of targeted drugs. Reliable CNV detection results can provide a very important basis for clinical medication and disease assessment. [0003] Most of the CNV detection techniques currently used clinically are experimental methods based on PCR or immunohistochemistry (such as FISH, IHC, etc.). This type of method can only detect CNV of common known genes, and the sensitivity of the detection results is low. It can only detect high-fold (generally more than 8 times) amplification variation, and a single detection can only cover one gene. [0004] The CNV detection based on the ...

AI Technical Summary

Problems solved by technology

However, due to the fundamental difference between the whole genome sequencing data and the target region capture sequencing data, the current CNV detection method of the traditional NGS platform is not suitable for the target region capture sequencing data, it is difficult to guarantee the accuracy of CNV detection, and the detection sensitivity needs to be improved

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