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Common copy number variations in the human genome for risk assessment of cancer susceptibility

A technology of copy number variation and genome, applied in the fields of genomics, proteomics, instruments, etc.

Active Publication Date: 2020-02-11
PHARMACOGENETICS
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  • Description
  • Claims
  • Application Information

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Problems solved by technology

To date, only certain "rare" genetic CNVs have been found to be associated with specific cancer classes, but there is no information on the association of common genetic CNVs with cancer that can be applied to predict cancer susceptibility

Method used

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  • Common copy number variations in the human genome for risk assessment of cancer susceptibility
  • Common copy number variations in the human genome for risk assessment of cancer susceptibility
  • Common copy number variations in the human genome for risk assessment of cancer susceptibility

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Embodiment Construction

[0035] On the premise of not departing from the disclosed spirit of the present invention, various replacements and modifications made to the scope of the technical field of the present invention are included in the scope of the present invention.

[0036] the term:

[0037] The term "a" used in the specification means one or more. As for "a" in the claims, it means one or more than one, while "another" as used herein means at least a second or more.

[0038] The term "copy number variation", or CNV, refers to a variation in the copy number of autosomal and female X-chromosomal DNAs of the human genome, normally two copies (ie, "diploid"). If more or less than two copies of a DNA segment are present, it becomes a CNV. In males, there is only one copy of both the X and Y chromosome DNAs (ie, "haploid"), so a DNA fragment with more or less than one copy becomes a CNV. More than the standard copy number is copy gain. Conversely, less than the standard copy number is copy redu...

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Abstract

The present invention is to predict the cancer susceptibility of human subjects, and compare the gene copy number variation ("CNV") of the subjects with the diagnostic common CNV feature series of the same race through machine learning. The CNV feature series must be selected from the CNVs of genetic DNA samples of non-cancer patients of the same race (referred to as "non-cancer DNA" samples) and genetic DNA samples of cancer patients (referred to as "cancer DNA" samples), which can be determined by correlation, frequency or classification. Selection, and then identification by naive Bayesian classification method, so that it can be effectively used to distinguish the genetic DNA of cancer patients from the genetic DNA of non-cancer patients. On this basis, the cancer susceptibility prediction of subjects can be performed using statistical methods, such as Naive Bayesian methods. In addition, the prediction of the cancer susceptibility of the subject by using the diagnostic common CNV features may be for a general cancer susceptibility, or for one or a few specific types of cancer susceptibility.

Description

technical field [0001] The invention belongs to the field of biotechnology, and relates to the application of a common copy number variation detection system in preparing a cancer susceptibility assessment system. Background technique [0002] The present invention relates to a method based on common copy number variation ("CNV") of human genetic genome for predicting cancer risk of a subject. The method is to identify common genetic CNVs from homogeneous DNA sample populations, including non-cancer tissue DNA from non-cancer patients (referred to as "non-cancer DNA" samples) and non-cancer tissue DNA from cancer patients (referred to as "cancer DNA" samples) ; Identify specific CNVs that are enriched in non-cancer patients or cancer patients in the same population through machine learning process and relative comparison, so as to formulate a set of diagnostic common CNV features. Then, this group of diagnostic common CNVs that can classify "non-cancer DNA" or "cancer DNA" ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886G16B20/10
CPCC12Q1/6809G16B20/00G16B20/10C12Q2535/122C12Q2537/165C12Q1/6886C12Q2600/156
Inventor 薛红丁肖凡曾瑞英
Owner PHARMACOGENETICS
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