Gene analysis guide system and method

Abstract

The invention provides a gene analysis guide system. The system comprises the following modules: an information retrieval module for collecting user operation information, wherein the user operation information indicates any one or multiple types of retrieved information in retrieved corresponding gene identifier information, disease identifier information and phenotype identifier information. Thesystem provided by the invention integrates multiple domestic and overseas authoritative databases, comprises total aggregation search of genes, diseases and phenotypes, supports mixed search of thegenes, the diseases and the phenotypes, and can search for the genes, the diseases and the phenotypes separately to obtain all information related to input entries. More comprehensive search is provided for doctors or medical personnel, so that more contents related to the input entries are obtained.

Description

technical field [0001] The invention relates to a system, in particular to a gene analysis guidance system and a method thereof. Background technique [0002] With the vigorous development of gene sequencing technology, the gene sequencing market is becoming more and more prosperous. Gene diagnosis has changed the traditional medical concept and provided a simpler and more effective method for the detection of genetic diseases. With the footsteps of precision medicine, the technology of Next Generation Sequencing (NGS) continues to innovate and the cost is reduced, and the traditional clinical detection technology can no longer fully meet the clinical needs. Since 2009, whole exome sequencing NGS applications represented by NGS, whole-genome sequencing, and disease-related gene panel sequencing have rapidly brought the field of genetic diagnosis into a new historical stage. The generation of massive NGS data has become a reality, but the quality control, analysis, annotatio...

AI Technical Summary

Problems solved by technology

The generation of massive NGS data has become a reality, but the quality control, analysis, annotation, mining and interpretation of data has become a high threshold requirement and a bottleneck for the development of this technology

At present, the products that provide such services at home and abroad include: (1) ANNOVAR, which can efficiently annotate the genome, including site information, disease information and bioinformatics prediction data, but has high requirements for operators and requires skilled use For bioinformatics personnel with Linux and Perl languages, the output results are stored in text format, which is not conducive to sample management

In addition, the software does not have gene, phenotype and disease retrieval functions, nor can it provide doctors with the function of inputting multiple phenotype information to calculate diseases, and cannot provide automated reports; (2) wANNOVAR is the web version of ANNOVAR, which has great The threshold for users is lowered, that is, all operations can be completed with a mouse click, and the output results are directly sent to the submitter's mailbox by e-mail. Like (1), the platform has no sample management, information retrieval and Phenotypic diagnosis and other functions; (3) TGex (Translational Genomics Expert) software, which has a reporting system and fast annotation speed, but the annotation is not comprehensive and does not have the American College of Medical Genetics and Genomics (American College of Medical Genetics and Genomics) software. Genomics, ACMG) automated scoring system

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