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Tumor gene mutation detection method and system based on RNA-seq data

A detection method and mutation detection technology, applied in the fields of genomics, electrical digital data processing, special data processing applications, etc.

Pending Publication Date: 2019-07-16
RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Prior to this, tumor gene detection was mostly based on DNA sequencing results of patient tumor tissue, but there were few applications for tumor gene mutation detection based on RNA-seq (transcriptome sequencing technology) data

Method used

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  • Tumor gene mutation detection method and system based on RNA-seq data
  • Tumor gene mutation detection method and system based on RNA-seq data
  • Tumor gene mutation detection method and system based on RNA-seq data

Examples

Experimental program
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Effect test

Embodiment 1

[0043] Such as figure 1 Shown, a kind of tumor gene mutation detection method based on RNA-seq data, described tumor gene mutation detection method based on RNA-seq data comprises the following steps:

[0044] Step S1: Collect and sort out the gene mutations with high incidence of different tumors and diseases, and establish a gene list and mutation site database for high-priority mutation detection;

[0045] Step S2: Collect and organize gene mutations and gene databases that currently have clear targeting or chemotherapeutic drug action sites;

[0046] Step S3: establishing an RNA-seq-based gene mutation annotation database;

[0047] Step S4: collecting and sorting out quality control, gene sequence comparison, and gene mutation detection algorithms for RNA-seq mutation detection;

[0048] Step S5: Establish a complete analysis process from raw RNA-seq sequencing data to final mutation detection results.

[0049] Wherein, the analysis process from the original RNA-seq seq...

Embodiment 2

[0065] Such as figure 2 Shown, a kind of tumor gene mutation detection method based on RNA-seq data, described tumor gene mutation detection method based on RNA-seq data comprises the following steps:

[0066] Step S1: Collect and sort out the gene mutations with high incidence of different tumors and diseases, and establish a gene list and mutation site database for high-priority mutation detection;

[0067] Step S2: Collect and organize gene mutations and gene databases that currently have clear targeting or chemotherapeutic drug action sites;

[0068] Step S3: establishing an RNA-seq-based gene mutation annotation database;

[0069] Step S4: collecting and sorting out quality control, gene sequence comparison, and gene mutation detection algorithms for RNA-seq mutation detection;

[0070] Step S5: Establish a complete analysis process from raw RNA-seq sequencing data to final mutation detection results.

[0071] Wherein, the analysis process from the original RNA-seq se...

Embodiment 3

[0089] A tumor gene mutation detection system based on RNA-seq data, the tumor gene mutation detection system based on RNA-seq data includes:

[0090] The gene list and mutation site database module is used to collect and sort out the gene mutations with high incidence of different tumors and diseases, and establish a gene list and mutation site database for high-priority mutation detection;

[0091] The gene mutation and gene database module is used to collect and sort out gene mutations and gene databases that already have clear targeting or chemotherapeutic drug action sites;

[0092] The gene mutation annotation database module is used to establish the gene mutation annotation database based on RNA-seq;

[0093] The detection module is used to collect and sort out quality control, gene sequence comparison, and gene mutation detection algorithms for RNA-seq mutation detection;

[0094] The analysis module is used to establish a complete analysis process from raw RNA-seq se...

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Abstract

The invention discloses a tumor gene mutation detection method based on RNA-seq data. The method comprises the following steps that gene mutations for different high-incidence tumors and diseases arecollected and sorted so as to build a high-priority mutation detection gene list and a mutation site database; gene mutations currently having specific targeted or chemotherapeutic drug action sites and gene database are collected and sorted; a gene mutation annotation database based on RNA-seq is built; quality control, gene sequence alignment and gene mutation detection algorithms used for RNA-seq mutation detection are collected and sorted; and a set of complete analysis process from initial RNA-seq sequencing data to final mutation detection result is built. The invention further disclosesa tumor gene mutation detection system based on RNA-seq data. By using the integrated multiple databases, people can more rapidly find the known gene mutation sites related to tumorigenesis through the detection analysis process.

Description

technical field [0001] The invention relates to the technical field of gene mutation detection, in particular to a tumor gene mutation detection method and system based on RNA-seq data. Background technique [0002] In recent years, with the rapid development and promotion of next-generation sequencing technology, it has played a pivotal role in the field of tumor gene detection. Prior to this, tumor gene detection was mostly based on DNA sequencing results of patients' tumor tissues, but there were few applications for tumor gene mutation detection based on RNA-seq (transcriptome sequencing technology) data. In fact, the gene mutations detected by RNA-seq data can often more directly reflect whether the relevant gene mutations are expressed in large quantities and produce abnormal proteins to participate in the metabolic pathways of cells. Therefore, in order to better complete the detection of tumor gene mutations based on RNA-seq data, an application technology based on ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B20/50
CPCG16B30/00
Inventor 黄金艳李剑峰
Owner RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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