DNA next generation sequencing whole-process quality analysis method

A technology of DNA sequencing and quality analysis, applied in proteomics, instrumentation, genomics, etc., can solve problems such as information redundancy, low efficiency, and poor visualization effect, and achieve the effect of ensuring correctness

Active Publication Date: 2019-04-16
江苏医联生物科技有限公司
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  • Abstract
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Problems solved by technology

Even if the inspection generally only uses samtools to output the quality information of all sites, the information in this way will be excessively redundant, the visualization effect is poor and the search efficiency is low
Vcf files often do not have a qualit

Method used

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Embodiment Construction

[0038] In order to make the object, technical solution and advantages of the present invention clearer, the present invention will be further described below in conjunction with specific embodiments. It should be understood that the specific embodiments described here are only used to explain the present invention, not to limit the present invention. Based on the embodiments of the present invention, all other embodiments obtained by persons of ordinary skill in the art without making creative efforts belong to the protection scope of the present invention.

[0039] A quality analysis method for the whole process of next-generation DNA sequencing, comprising:

[0040] Step 1) collecting the biological samples of the human body, and performing gene sequencing on them; collecting the biological samples of the human body through the kit, and performing gene sequencing on the collected biological samples by the gene sequencing method;

[0041] Step 2) uploading the biological seq...

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Abstract

The invention relates to a DNA next generation sequencing whole-process quality analysis method. The method comprises the steps 1), genetic sequencing is conducted on a biological sample; 2), biological sequencing data obtained by genetic sequencing is uploaded; 3), quality analysis is conducted on an original sequencing sequence file fastq; 4), quality analysis is conducted on a bam file on whichgenome comparison is completed; 5), quality analysis is conducted on a mutation information vcf file. The method has the advantages that a detailed quality report is given by adopting genetic sequencing whole-process, the accuracy of each step can be ensured, a correct result can be given in the final result, detailed analysis is conducted on the fastq, the bam and the vcf file, the quality analysis report is not only an evaluation operation on the reliability of the result but also a feedback of an original experimental operation, and the practical demands can be well met.

Description

technical field [0001] The invention belongs to the technical field of genome sequencing, and in particular relates to a quality analysis method for the whole process of next-generation DNA sequencing. Background technique [0002] DNA next-generation sequencing technology is becoming more and more mature, and its price is falling. It has been widely used in research and diagnosis in various fields of medicine. For example, in genetic diseases, whole-exome sequencing or genome sequencing is often done, aiming to find out the mutation sites that cause disease and help patients diagnose and use and develop drugs. In tumors, the mutation information on the genome can help patients to effectively choose treatment options, which can reduce the economic burden and increase the chance of treatment. [0003] Although next-generation sequencing can help research and diagnosis in the medical field, unqualified data cannot effectively help clinical practice, and may even mislead clini...

Claims

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Application Information

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IPC IPC(8): G16B20/20G16B25/10
Inventor 杨文婷陈亮
Owner 江苏医联生物科技有限公司
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