Automatic analysis and interpretation system for genetic disease NGS data

Abstract

The invention discloses an automatic analysis and interpretation system for genetic disease NGS data, which relates to the technical field of gene sequencing and comprises a data import module, a database, a software library, a data analysis module and a report module. The database is used for providing various large databases; the software library is used for providing analysis software, the data analysis module is used for acquiring fastq original data imported by the data import module, performing screening in combination with a big data algorithm, performing analysis by utilizing an artificial intelligence algorithm in combination with a phenotype, generating a data analysis report through the report module, and extracting software needing to be updated from the software library; the automation level and accuracy of the genetic disease NGS data automatic analysis and interpretation system are improved by adding big data screening and artificial intelligence analysis, and the system has the advantages of being high in automation degree, conforming to evidence-based medical diagnosis logic and the like; high accuracy and good clinical application prospects are shown in the aspect of gene diagnosis of rare stubborn diseases.

Description

technical field [0001] The invention relates to the technical field of gene sequencing, in particular to an automatic analysis and interpretation system for genetic disease NGS data. Background technique [0002] High-throughput sequencing technology (next-generation sequencing, NGS) is being more and more widely used in clinical molecular diagnosis of genetic diseases, but NGS will generate massive data; how to correctly and reasonably interpret gene (group) variation, so as to Identifying reliable and clinically meaningful mutations in huge data, so that they can be correctly and efficiently applied to clinical diagnosis has become the most difficult problem restricting the accurate diagnosis and treatment of genetic diseases; for this reason, the present invention proposes an automated NGS data for genetic diseases Analyze and interpret the system. Contents of the invention [0003] The present invention aims to solve at least one of the technical problems existing in ...

AI Technical Summary

Problems solved by technology

For this reason, the present invention proposes an automatic analysis and interpretation system for genetic disease NGS data, which solves the most difficult problem of identifying reliable and clinically significant variations from huge data, so that it can be correctly and efficiently applied to clinical diagnosis. The present invention Based on artificial intelligence and big data analysis, it has the advantages of a high degree of automation and conforms to the diagnostic logic of evidence-based medicine. It has shown high accuracy and good clinical application prospects in the genetic diagnosis of rare and difficult diseases.

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