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Circulating tumor DNA copy number variation detection method and apparatus

A copy number variation and tumor technology, applied in the field of genetics, can solve the problems of poor detection accuracy of DNA copy number variation in circulating tumors, and achieve the effect of improving accuracy

Active Publication Date: 2018-07-24
GENE CRAB BIOTECH CO
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0014] The embodiment of the present invention provides a method and device for detecting DNA copy number variation of circulating tumors, so as to at least solve the technical problem of poor detection accuracy of circulating tumor DNA copy number variation in the prior art

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  • Circulating tumor DNA copy number variation detection method and apparatus
  • Circulating tumor DNA copy number variation detection method and apparatus
  • Circulating tumor DNA copy number variation detection method and apparatus

Examples

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Embodiment 1

[0041] According to an embodiment of the present invention, an embodiment of a method for detecting copy number variation is provided. It should be noted that the steps shown in the flow chart of the accompanying drawings can be executed in a computer system such as a set of computer-executable instructions, Also, although a logical order is shown in the flowcharts, in some cases the steps shown or described may be performed in an order different from that shown or described herein.

[0042] figure 1 It is a flowchart of a method for detecting copy number variation according to an embodiment of the present invention, such as figure 1 As shown, the method includes the following steps:

[0043] Step S11, determine the sequencing results of the normal population and the sequencing results of the target to be tested through the gene data of the normal population and the target gene data to be tested respectively.

[0044] Specifically, the genetic data of the above-mentioned nor...

Embodiment 2

[0213] According to an embodiment of the present invention, a detection device for copy number variation is provided, Figure 4 is a schematic diagram of a copy number variation detection device according to an embodiment of the present invention, combined with Figure 4 As shown, the device includes:

[0214] The determining module 40 is configured to determine the sequencing results of the normal population and the sequencing results of the target to be tested by using the gene data of the normal population and the gene data of the target to be tested respectively.

[0215] The acquisition module 42 is configured to acquire the first capture interval parameter and the second capture interval parameter, wherein the first capture interval parameter is used to characterize the parameters of the normal crowd sequencing results on the capture interval, and the second capture interval parameter is used to characterize the parameters to be tested Parameters of the target sequencin...

Embodiment 3

[0221] According to an embodiment of the present invention, a storage medium is provided, and the storage medium includes a stored program, wherein when the program is running, the device where the storage medium is located is controlled to perform the detection of the copy number variation of circulating tumor DNA described in Example 1 method.

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Abstract

The invention discloses a circulating tumor DNA copy number variation detection method and apparatus. The method comprises the steps of determining a normal crowd sequencing result and a to-be-detected target sequencing result through normal crowd gene data and to-be-detected target gene data; obtaining a first capture interval parameter and a second capture interval parameter; performing standardization processing on the first capture interval parameter and the second capture interval parameter to obtain a first depth of the first capture interval parameter and a second depth of the second capture interval parameter; according to the first depth, determining a first copy number variation score; according to the first depth and the second depth, determining a second copy number variation score; and according to the first copy number variation score and the second copy number variation score, determining a copy number variation detection result of the to-be-detected target gene data. The technical problem of poor circulating tumor DNA copy number variation detection accuracy in the prior art is solved.

Description

technical field [0001] The present invention relates to the field of genes, in particular to a detection method and device for the variation of the copy number of circulating tumor DNA. Background technique [0002] Circulating tumor DNA (circulating tumor DNA, ctDNA) is a kind of extracellular DNA in a cell-free state, which exists in body fluids such as blood, synovial fluid, ascites and cerebrospinal fluid, especially plasma cell-free DNA (cfDNA) Rich in content. It is mainly composed of single-stranded or double-stranded DNA and mixtures of single-stranded and double-stranded DNA. It is a tumor marker with broad application prospects, high sensitivity and high specificity, and is suitable for a variety of tumors. Tumor staging, prognosis assessment, and dynamic monitoring can be performed through ctDNA. The tumor information it carries can also be used for medication guidance, not only simple sampling, but also a more comprehensive grasp of tumor information. At pres...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18
CPCG16B20/00
Inventor 郭昊韩天澄于佳宁林小静宋雪
Owner GENE CRAB BIOTECH CO
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