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Method and device for extracting biomarkers based on deep sequencing data of cell-free DNA

A biomarker and deep sequencing technology, applied in the field of molecular biology, can solve the problems of low tumor mutation recurrence rate, low mutation recurrence rate, and undetectable mutation, and achieve the goal of reducing cost and implementation complexity Effect

Active Publication Date: 2022-08-05
BEIJING NEOCURNA BIOTECHNOLOGY CORP
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Problems solved by technology

However, the existing schemes for finding tumor DNA biomarkers from blood (or other body fluids) based on tumor tissue mutation data are not perfect
First, even in the same tumor type, the recurrence rate of related mutations among patients is not high
Secondly, the consistent relationship between tumor tissue and ctDNA mutation information of the same patient still needs to be verified by large-scale experiments
Mutations detected in patient tumor tissue samples cannot be detected in ctDNA samples (blood or other body fluids) due to many biological and detection technology factors
The low recurrence rate of tumor mutations and the loss of ctDNA mutations limit the promotion of ctDNA in clinical practice, especially in early diagnosis

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  • Method and device for extracting biomarkers based on deep sequencing data of cell-free DNA
  • Method and device for extracting biomarkers based on deep sequencing data of cell-free DNA
  • Method and device for extracting biomarkers based on deep sequencing data of cell-free DNA

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Embodiment Construction

[0034] In order for those skilled in the art to better understand the present invention, the embodiments of the present invention will be described in detail below with reference to the accompanying drawings. The expressions "first", "secondly", "again", "then", "next" and the like used in the specific embodiments herein are not intended to limit the order of precedence.

[0035] figure 1 It is a flow chart of a method for extracting biomarkers based on deep sequencing data of different types of cell-free DNA implemented by a computer according to an embodiment of the present invention. As shown, the method includes the following steps performed by the processor:

[0036] S101, acquiring deep sequencing data of cell-free DNA of samples of different types.

[0037] Specifically, obtaining cell-free DNA deep sequencing data from multiple samples (eg, body fluid samples) of different categories as sample data, and the sample data includes multiple overlapping or partially overl...

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Abstract

Provided are a method and device for extracting biomarkers based on deep sequencing data of cell-free DNA. The method includes the following steps performed by a processor: obtaining deep sequencing data of cell-free DNA of samples of different categories; calculating the frequency value of each variation of each sample data at each base position; based on the calculated each base The frequency values ​​of each variant at the position are obtained, the frequency distribution of the variants at all base positions for each class is obtained; the variants whose frequency distributions are sufficiently different between classes are determined; and the biomarkers are extracted based on the determined variants. This method can greatly mine the information in cfDNA data.

Description

technical field [0001] The invention relates to the technical field of molecular biology, in particular to a method and device for extracting biomarkers based on deep sequencing data of cell-free DNA. Background technique [0002] Human diseases are directly or indirectly related to genes (this type of disease is also referred to as genetic disease in the text), such as all genetic diseases, are caused by abnormal gene structure or gene expression; some diseases are caused by environmental factors. The result of a combination of genetic factors, such as smoking causes lung cancer. Diseases caused by genetic abnormalities (ie, genetic diseases) are broadly classified into the following three categories: 1. Monogenic diseases: Defects in one gene locus, such as sickle cell anemia. 2. Polygenic diseases: involving more than one gene and the interaction of genes and environmental factors, such as tumors, cardiovascular diseases, metabolic diseases, neurological and psychiatric ...

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20G16B20/50G16B40/20G16B30/10
CPCG16B20/00G16B25/00
Inventor 万季宋麒潘有东崔好韩艳高峰
Owner BEIJING NEOCURNA BIOTECHNOLOGY CORP
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