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Analysis method of gene testing data for sequencer and system

A technology for gene detection and analysis methods, applied in sequence analysis, genomics, instruments, etc., can solve the problems of long time, high cost, and difficulty in guaranteeing objectivity, so as to reduce human-induced errors, improve objectivity, and shorten work. effect of cycles

Inactive Publication Date: 2019-06-21
ANNGEEN BIOTECHNOLOGY CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0005] In order to solve the problems existing in the existing gene detection data analysis schemes, such as difficulty in guaranteeing objectivity, long time, and high cost, the present invention innovatively provides an analysis method and system for gene detection data used by a sequencer, so as to realize gene sequencing Data quality control, analysis and annotation of machine data automation

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  • Analysis method of gene testing data for sequencer and system
  • Analysis method of gene testing data for sequencer and system
  • Analysis method of gene testing data for sequencer and system

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Embodiment 1

[0030] like figure 1 As shown in , this embodiment discloses an analysis method for gene detection data used by a sequencer, which automatically processes off-machine data for gene sequencing. Compared with the prior art, the present invention completely solves the problems of poor objectivity, long time and high cost in the traditional manual analysis method. Specifically, the analysis method includes the following steps.

[0031] Preparatory steps: the experimenter performs relevant configuration on the server (for example, a next-generation sequencing server): this embodiment takes the analysis process of the gene detection data of hypercholesterolemia as an example, the experimenter completes the basic configuration of the sequencing when creating the sequencing plan, In the plug-in analysis option, check the relevant plug-in for genetic testing data analysis (for example, iAnalyses plug-in), and select high Cholesterolemia option; after the sequencer completes the sequen...

Embodiment 2

[0036] like figure 2 As shown, this embodiment is based on the same inventive concept as Embodiment 1, and specifically discloses an analysis system for gene detection data used by a sequencer, which can be understood as a knowledge interpretation system for gene detection data. This embodiment directly uses the analysis system Embedding a sequencer avoids the process of downloading a large amount of sequencing data, saving time and storage resources; specifically, the analysis system includes: a quality control module, an analysis module, and an annotation module.

[0037] The quality control module is used to perform data quality control on the genetic testing data in the sequencer: the coverage rate of the retained amplified fragments reaches the preset coverage rate and the coverage depth of the amplified fragments reaches the preset coverage depth and the uniformity of the amplified fragments The genetic testing data that reaches the preset value is used as the data to b...

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Abstract

The invention discloses an analysis method of gene testing data for a sequencer and a system. The analysis method comprises the steps of performing data quality control on the gene testing data in thesequencer so that the coverage range of an amplification fragment reaches a preset coverage range, the coverage depth of the amplification fragment reaches a preset coverage depth and furthermore thehomogeneity of the amplification fragment reaches a preset value, filtering ineffective amplification fragment data and ineffective base data in to-be-processed data, thereby obtaining effective data, screening the base data with a mutation characteristic from the effective data, and performing multilayer annotation on the base data with the mutation characteristic for obtaining analysis result data. The analysis system comprises a quality control module, an analysis module and an annotation module. According to the analysis method, data batch data quality control, analysis and annotation areautomatically performed on the sequencing generation data on the sequencer, thereby greatly reducing artificial introduced errors, remarkably improving objectivity in gene testing data analysis and greatly reducing cost.

Description

technical field [0001] The present invention relates to the technical field of gene detection data analysis, and more specifically, the present invention relates to a method and system for analyzing gene detection data used in a sequencer. Background technique [0002] Common genetic diseases often lead to serious consequences, for example, familial hypercholesterolemia predisposes individuals to premature cardiovascular disease. Despite this, most patients remain undiagnosed, and even when a diagnosis seems certain, treatment is often suboptimal. [0003] Advances in molecular technology are reshaping our understanding of this condition, including increasing population prevalence. Furthermore, the range of causative loci, the breadth of types and classes of rare pathogenic variants, and the polygenic basis of phenotypes expose the underlying pathophysiological complexity in many patients. A disease such as familial hypercholesterolemia can be imagined as a cluster of rela...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16B30/00G16B20/50G16B20/30G16B20/20
Inventor 曹彦东周洋马懿陈建齐
Owner ANNGEEN BIOTECHNOLOGY CO LTD