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Statistics verification method for high-throughput sequencing mutation detection results

A technology for verifying methods and detecting results, applied in biostatistics, computing, informatics, etc., can solve the problem of high cost

Active Publication Date: 2016-05-11
北京圣谷智汇医学检验所有限公司
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Problems solved by technology

Although the verification cost of a single site is not high, the cost is high if there are many sites to be tested at one time and the testing is frequent

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  • Statistics verification method for high-throughput sequencing mutation detection results
  • Statistics verification method for high-throughput sequencing mutation detection results
  • Statistics verification method for high-throughput sequencing mutation detection results

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Embodiment Construction

[0036] In order to make the object, technical solution and advantages of the present invention clearer, the present invention will be further described in detail below in conjunction with specific embodiments and with reference to the accompanying drawings. It should be understood that these descriptions are exemplary only, and are not intended to limit the scope of the present invention. Also, in the following description, descriptions of well-known structures and techniques are omitted to avoid unnecessarily obscuring the concept of the present invention.

[0037] 1. Establish a negative background mutation frequency library for hotspot mutations

[0038] For the known 2855 hotspot mutations (distributed in 50 genes closely related to various cancers), the DNA of leukocytes in the peripheral blood samples of 2000 random non-small cell lung cancer patients was highly analyzed on the IonTorrent sequencing platform. Through-put sequencing and data analysis to determine the mut...

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Abstract

The invention relates to a statistics verification method for high-throughput sequencing mutation detection results. The method comprises the steps that firstly, a feminine background mutation frequency library of interested mutation is established; based on the feminine background mutation frequency library, the mutation detection results of a mononucleotide replacing type in the high-throughput sequencing mutation detection results are verified through Z detection, and the mutation detection results of a continuous polynucleotide missing type in the high-throughput sequencing mutation detection results are verified through chi-square detection. By means of the method, the high-throughput sequencing mutation detection results can be verified without any cost, and high correctness and sensitivity are achieved.

Description

technical field [0001] The invention relates to a method for verifying mutation detection results of high-throughput sequencing. Background technique [0002] Malignant tumor is one of the major diseases threatening human health, and it is also the main cause of global morbidity and death. According to the data released by the World Health Organization, there were approximately 14 million new cancer cases and 8.2 million cancer-related deaths in 2012. According to global cancer statistics, the death rate of lung cancer ranks first among male-related cancers, and the female-related cancer death rate in developed countries surpasses breast cancer and ranks first. Lung cancer is divided into small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC). Gene mutation is a key factor in the occurrence, development and deterioration of lung cancer. The occurrence of lung cancer is the result of gene mutation and long-term accumulation of multiple mutations caused by var...

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Application Information

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IPC IPC(8): G06F19/24
CPCG16B40/00
Inventor 刘志源张静波陈威
Owner 北京圣谷智汇医学检验所有限公司
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