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Method and device for extracting biomarker on basis of depth sequencing data of cell free DNAs

A biomarker and deep sequencing technology, applied in the field of molecular biology, can solve the problems of low recurrence rate of tumor mutations, missing ctDNA mutations, low mutation recurrence rate, etc., and achieve the effect of reducing cost and implementation complexity

Active Publication Date: 2018-05-11
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

Method used

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  • Method and device for extracting biomarker on basis of depth sequencing data of cell free DNAs
  • Method and device for extracting biomarker on basis of depth sequencing data of cell free DNAs
  • Method and device for extracting biomarker on basis of depth sequencing data of cell free DNAs

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Embodiment Construction

[0034] In order to enable 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. Expressions such as "first", "second", "again", "then", and "next" used in the specific embodiments herein are not intended to limit the sequence.

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

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

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

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Abstract

The invention provides a method and a device for extracting a biomarker on the basis of depth sequencing data of cell free DNAs. The method comprises the following steps which are executed by a processor: the depth sequencing data of cell free DNAs of different types of samples are obtained; the frequency values of all variations of the data of each sample in each basic group position are calculated; the frequency distribution of the variations in all basic group positions of each type are obtained on the basis of the calculated frequency values of all variations in each basic group position;the variations whose frequencies differ greatly among the types are determined; the biomarker is extracted on the basis of the determined variations. According to the method, information in the cfDNAcan be excavated to the maximum.

Description

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

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18G06F19/20
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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