Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Lung cancer somatic mutation detection and analysis method based on high-throughput sequencing technique

A technology of somatic mutation and analysis method, applied in the field of biological detection, can solve the problems of single detection index, ineffective presentation of data information, false positives, etc., and achieve the effect of strong flexibility and accurate and reliable analysis results.

Inactive Publication Date: 2017-11-24
SHANGHAI PASSION BIOTECHNOLOGY CO LTD
View PDF5 Cites 29 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] (1) Reliability of test results: due to different filtering and statistical methods of different methods, there are still some false positive and false negative problems in existing analysis methods
[0005] (2) Single detection index: Most of the existing analysis methods can only detect single nucleotide mutation (SNP), insertion deletion (Indel), and some can only detect gene fusion (Gene Fusion) or copy number variation (CNV )
[0006] (3) The report results are single: in the existing analysis methods, there are only some simple chart reports in the results, and there are still many data information that are not effectively presented

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Lung cancer somatic mutation detection and analysis method based on high-throughput sequencing technique
  • Lung cancer somatic mutation detection and analysis method based on high-throughput sequencing technique
  • Lung cancer somatic mutation detection and analysis method based on high-throughput sequencing technique

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0048] In order to achieve the purpose of the present invention, the present invention includes five main steps, (1) data quality control; (2) sequence alignment; (3) variation detection; (4) variation annotation; (5) statistical report. Such as figure 1 As shown, the specific steps and methods are as follows:

[0049] (1) Data quality control steps

[0050] (1.1) First check the sequencing data through FastQC: base quality, GC content, sequence length distribution, sequence repetition level, etc.; then use the perl language to quickly and efficiently calculate a series of quality indicators of the sequencing data, including total bases Number, number of reads, sequence length, Q20, Q30, GC content, N number and their relative percentages.

[0051] (1.2) This step uses AdapterRemoval to remove the adapter sequences contained at both ends of the sequence. This step can effectively improve the effective data and reduce subsequent alignment errors.

[0052] (1.3) In this step,...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention discloses a lung cancer somatic mutation detection and analysis method based on a high-throughput sequencing technique. The method comprises the steps of (1) controlling quality; (2) comparing sequences; (3) detecting mutations; (4) annotating the mutations; (5) reporting the results. Compared with the prior art, the method of the invention has the advantages that the detection results are reliable; the detection content is diversified; the detection method is flexible; the data results are visualized.

Description

technical field [0001] The invention relates to the technical field of biological detection, in particular to a method for detecting and analyzing lung cancer somatic cell mutations based on high-throughput sequencing technology. The present invention mainly analyzes exome sequencing sample data with paired normal tissue and tumor tissue. Background technique [0002] my country is a country with a high incidence of lung cancer. At present, lung cancer, especially non-small cell lung cancer, has been confirmed to be related to multiple gene mutations, fusions, and gene amplifications. However, the current mainstream analysis programs can only target single nucleic acid mutations, gene fusions, or amplifications. However, there are still some false positive and false negative problems in the existing analysis methods, which will inevitably cause troubles for the targeted therapy of lung cancer patients in the later stage and affect the treatment effect of patients. Therefore,...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): G06F19/22
CPCG16B30/00
Inventor 刘港彪王玲平朱月艳孙子奎
Owner SHANGHAI PASSION BIOTECHNOLOGY CO LTD
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com