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Low-depth whole-genome gene copy number variation detection method and system

A gene copy number and genome-wide technology, applied in genomics, proteomics, instruments, etc., can solve problems such as low timeliness and low accuracy, and achieve improved computing efficiency, high accuracy, and accurate detection results reliable effect

Inactive Publication Date: 2020-03-24
上海捷易生物科技有限公司 +1
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Problems solved by technology

[0003] The present invention provides a low-depth detection method and system for whole-genome gene copy number variation, which is superior to other detection methods and can solve the problems of low accuracy and low timeliness

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  • Low-depth whole-genome gene copy number variation detection method and system
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  • Low-depth whole-genome gene copy number variation detection method and system

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Embodiment Construction

[0033] The following will clearly and completely describe the technical solutions in the embodiments of the present invention with reference to the accompanying drawings in the embodiments of the present invention. Obviously, the described embodiments are only some, not all, embodiments of the present invention. Based on the embodiments of the present invention, all other embodiments obtained by persons of ordinary skill in the art without making creative efforts belong to the protection scope of the present invention.

[0034] The terms "first", "second", "third", "fourth", etc. (if any) in the description and claims of the present invention and the above drawings are used to distinguish similar objects and not necessarily Describe a specific order or sequence. It is to be understood that the data so used are interchangeable under appropriate circumstances such that the embodiments of the invention described herein can be practiced in sequences other than those illustrated or...

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Abstract

The invention provides a low-depth whole-genome gene copy number variation detection method and system. The method comprises the following steps: comparing a to-be-detected sample to a genome according to a control sample; counting data blocks on the genome and the data volume of each data block; calculating the similarity of two adjacent data blocks, performing aggregating if the two adjacent data blocks are similar, and carrying out loop iteration until all the data blocks on the genome cannot be aggregated again; calculating ratio values of the to-be-detected sample and the control sample of each data block, and finding out abnormal data blocks, namely candidate gene copy number variation, according to a preset normal value range. The system comprises a data preprocessing module, a datastatistics module, a data aggregation module and a gene copy number variation determination module which are connected in sequence. Through the low-depth whole-genome gene copy number variation detection method and system, the problems that the accuracy is too low and the timeliness is low are solved.

Description

technical field [0001] The invention relates to the technical field of gene copy number variation, in particular to a method and system for detecting low-depth genome-wide gene copy number variation. Background technique [0002] Due to the continuous development of next-generation sequencing technology (NGS), the use of NGS to detect gene copy number variation (CNV) has better advantages than chip methods. Typically, high-depth paired-end whole-genome sequencing has high sensitivity and resolution for CNV detection. However, the cost of high-depth whole gene sequencing (WGS) is very expensive, so low-depth WGS detection of CNV came into being, but the corresponding CNV detection method is relatively stagnant, and even the method of detecting high-depth WGS is directly applied For low-depth WGS data, the timeliness and accuracy of the analysis results are not satisfactory. Contents of the invention [0003] The present invention provides a low-depth detection method and ...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/00
CPCG16B20/00
Inventor 顾丽朋陈珺
Owner 上海捷易生物科技有限公司
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