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
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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 (SN

Method used

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  • 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

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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,...

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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

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Application Information

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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
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