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Sequence variation verification method and device, method and device for producing variant sequences, and electronic equipment

A verification method and variation technology, which is applied in the field of sequence variation correction devices, devices for generating variation sequences and electronic equipment, can solve the problems that it is difficult to determine a standard for test results, and achieve the effect of increasing reliability

Active Publication Date: 2021-09-07
北京安诺优达医学检验实验室有限公司 +1
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  • Abstract
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  • Claims
  • Application Information

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Problems solved by technology

[0003] Detection of variants based on next-generation sequencing is widely used, but it is difficult to determine a standard for the detection results, so the simulation of fastq data is necessary

Method used

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  • Sequence variation verification method and device, method and device for producing variant sequences, and electronic equipment
  • Sequence variation verification method and device, method and device for producing variant sequences, and electronic equipment
  • Sequence variation verification method and device, method and device for producing variant sequences, and electronic equipment

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Embodiment Construction

[0049] Hereinafter, exemplary embodiments according to the present application will be described in detail with reference to the accompanying drawings. Apparently, the described embodiments are only some of the embodiments of the present application, rather than all the embodiments of the present application. It should be understood that the present application is not limited by the exemplary embodiments described here.

[0050] Application overview

[0051] As mentioned above, in the current sequence simulation tools, the mutated fasta sequence is simulated from the reference genome sequence. Moreover, in the process of simulating variation, it is necessary to perform verification at the fasta sequence simulation step to ensure the correctness of the simulation at this step.

[0052] However, currently there is no method for separately checking the simulated fasta sequence in the simulated mutation tool, nor is there a method for visually displaying the checking results in...

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Abstract

Disclosed are a sequence variation verification method, a method for generating a variation sequence, a sequence variation correction device, a device for generating a variation sequence, and electronic equipment. The method for checking sequence variation includes: obtaining an original sequence; obtaining variation information; obtaining a mutated sequence to be checked; and checking the sequence to be checked based on the original sequence and the variation information to determine the sequence to be checked. Verify that the mutation of the sequence is correct. In this way, the reliability of the variation simulation process is increased.

Description

technical field [0001] The present application relates to the field of sequence variation data processing, and more specifically, relates to a sequence variation verification method, a method for generating a variation sequence, a sequence variation correction device, a device for generating a variation sequence, and electronic equipment. Background technique [0002] The current research on the differences between genome sequences is mainly based on data in two formats: fasta and fastq. For fasta, there are tools such as blast, which visually display the sequences after alignment, so that it is easy to view the differences between two sequences; for fastq, there are a variety of variation detection tools based on next-generation sequencing, and such The results of tools are mostly saved in vcf format. [0003] Detection of variants based on next-generation sequencing is widely used, but it is difficult to determine a standard for the detection results, so the simulation of...

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20G16B5/00G16B50/00
Inventor 周淼荆瑞琳杜洋李大为玄兆伶王海良肖飞
Owner 北京安诺优达医学检验实验室有限公司