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Method and device for testing creditability of chronic disease multi-gene risk evaluating product

A technology for risk assessment and chronic disease, applied in genomics, informatics, medical informatics, etc., can solve the problem of inability to obtain credibility, and achieve the effect of objective and rigorous detection methods.

Inactive Publication Date: 2019-08-06
上海诺效基因科技有限公司
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Problems solved by technology

[0024] Since the polygenic risk score is a probabilistic indicator of future disease prediction, its reliability cannot be quickly gained from individual experience
Its reliability can only be assessed in large populations with known disease status

Method used

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  • Method and device for testing creditability of chronic disease multi-gene risk evaluating product
  • Method and device for testing creditability of chronic disease multi-gene risk evaluating product
  • Method and device for testing creditability of chronic disease multi-gene risk evaluating product

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Embodiment Construction

[0048]Embodiments of the present invention are described below through specific examples, and those skilled in the art can easily understand other advantages and effects of the present invention from the content disclosed in this specification. The present invention can also be implemented or applied through other different specific embodiments, and the details in this specification can also be modified or changed based on different viewpoints and applications without departing from the spirit of the present invention.

[0049] see Figure 1 to Figure 9 . It should be noted that the diagrams provided in the embodiments of the present invention are only schematically illustrating the basic concept of the present invention, and only the components related to the present invention are shown in the diagrams rather than the number and shape of components in actual implementation. and size drawing, the type, quantity and proportion of each component can be changed arbitrarily durin...

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Abstract

The invention provides a method for testing creditability of a chronic disease multi-gene risk evaluating product. The method comprises the following steps of S1, determining whether the chronic disease multi-gene risk evaluating product satisfies the following conditions, 1), whether a multi-gene risk evaluating predicated value is consistent with an actual predicting risk value; and S2, obtaining a testing result, if the chronic disease multi-gene risk evaluating product satisfies all conditions in the step S1, determining high credibility of the chronic disease multi-gene risk evaluating product. The method according to the invention has advantages of quantification, high objectiveness, and high strictness.

Description

technical field [0001] The invention relates to the field of medical data processing, in particular to a method and device for evaluating the credibility of polygenic risk assessment products for chronic diseases. Background technique [0002] Single nucleotide polymorphisms (Single Nucleotide Polymorphisms, SNPs) refer to the difference in DNA sequence caused by a single nucleotide at the individual genome level, which is the most common type of human genetic variation and widely exists in the genome , totaling more than 3 million, but only some of them are associated with disease risk. [0003] SNPs associated with disease risk can be discovered through genome-wide association studies (GWAS). GWAS research is to compare the frequency difference of SNPs loci between the two groups of cases and controls on a genome-wide scale, and find out the SNPs related to the risk of disease. Since GWAS research adopts the strictest statistical significance standard (P<5x10 -8 ), a...

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Application Information

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IPC IPC(8): G16B20/20G16H50/30
CPCG16B20/20G16H50/30
Inventor 徐剑锋虞洪杰石竹青
Owner 上海诺效基因科技有限公司
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