Gene data system for clinical diagnosis and prediction

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...

AI Technical Summary

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 lack of clinical rigor sex and accuracy

General clinical molecular testing and diagnosis and laboratories in the United States have their own clinical databases, but in addition to the lack of data on gene pathogenic mutations in the Chinese population, there is also a lack of normal genetic variation in the Chinese population

Images