Gene data system for clinical diagnosis and prediction

A genetic data and clinical diagnosis technology, applied in data visualization, electrical digital data processing, special data processing applications, etc., can solve problems such as inaccuracy, lack of clinical rigor and accuracy, and lack of data on pathogenic variants. To achieve the effect of convenient use, high reliability and high degree of automation

Inactive Publication Date: 2017-10-13
张巍
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Problems solved by technology

The clinically reliable gene variation is confused with the unreliable variation, resulting in the inaccuracy of the clinical variation meaning, including the fact that the data generation personnel are mainly based on basic scientific research rather than clinical molecular diagnosticians trained in clinical specialties, and

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  • Gene data system for clinical diagnosis and prediction
  • Gene data system for clinical diagnosis and prediction
  • Gene data system for clinical diagnosis and prediction

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[0030] In order to make the object, technical solution and effect of the present invention more clear and definite, the present invention will be further described in detail below with reference to the accompanying drawings and examples. It should be understood that the specific embodiments described here are only used to explain the present invention, not to limit the present invention.

[0031] refer to figure 1 , the present embodiment provides a genetic data system for clinical diagnosis and prediction, including:

[0032] The source data processing module 101 is configured to receive raw sequencing data, and classify and process the raw sequencing data according to preset rules to generate single nucleotide variation genomic data and copy number variation genomic data;

[0033] A data warehouse 102, configured to store the single nucleotide variation genome data and the copy number variation genome data;

[0034] The data application module 103 is configured to receive ...

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Abstract

The invention discloses a gene data system for clinical diagnosis and prediction. The system comprises a source data processing module, a data warehouse and a data application module, wherein the source data processing module is used for receiving original sequencing data, conducting sort processing on the original sequencing data according to a preset rule, and generating single nucleotide variation genome data and copy number variation genome data; the data warehouse is used for storing the single nucleotide variation genome data and the copy number variation genome data; the data application module is used for receiving control commands, acquiring related data from the data warehouse according to the control commands and disposing and outputting the related data; the system further builds the data architecture of normal variation and pathogenicity variation of the human gene, can conduct analysis and management on the data and provides reliable data support for clinical diagnosis and prediction.

Description

technical field [0001] The invention relates to the technical field of genome big data, in particular to a genetic data system for clinical diagnosis and prediction. Background technique [0002] Genomic big data (genomicsdata) is currently constructing a genome map of human genome variation, including methods for describing genome content at the sequence level, sequence variation, and other descriptions of function and phenotype. At present, nucleic acid sequence databases generally cover sequence data from complete genomes to individual genes and some related functional annotation information, which are called primary databases. More importantly, there are some more targeted genomic resources, or dedicated databases. These private databases contain some data from the above-mentioned primary databases, as well as information obtained from other database sources. Although such special databases also contain sequence data, their main feature is to provide a complete data re...

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Application Information

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IPC IPC(8): G06F19/28G06F19/24G06F19/26G16B45/00
CPCG16B40/00G16B45/00G16B50/00
Inventor 张巍陆国辉
Owner 张巍
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