Method for automatic and comprehensive online analysis of genome sequences

Abstract

The invention relates to a method for automatic and comprehensive online analysis of genome sequences. The method comprises the following steps of 1, uploading sample data; 2, analyzing the sample data; 3, querying an analysis result of a single sample; 4, conducting combination analysis of multiple samples; 5, querying a combination analysis result. According to the method for the automatic and comprehensive online analysis of the genome sequences, an innovative mode of gene sequence data management is put forward, and not only can gene sequence data of multiple human individuals be stored simultaneously, but also it can be achieved that the gene sequence data corresponds to basic information of the individuals; a more accurate, faster and more comprehensive analysis method of the genome sequences is put forward, and the more complete annotation of genetic information is achieved; a novel, personalized and visualized online display mode of analysis results is put forward, and the method is suitable for ordinary people and doctors or research personals related to biomedicine and can well meet the needs of practical application.

Description

technical field [0001] The invention belongs to the technical field of genome sequence analysis, and in particular relates to a method for automatically and comprehensively analyzing genome sequences online. Background technique [0002] Genome sequencing and analysis technologies are widely used in basic research and clinical application of major diseases. For example, researchers can use tumor tissues or samples from different sources to study the mechanism of tumor occurrence and metastasis, screen for markers for early diagnosis or recurrence of tumors, or combine clinical data to evaluate the quality of early treatment under different treatment options, To explore the mechanism of good or bad prognosis in different patients. [0003] Tumor and other diseases have always been barriers that modern medicine cannot overcome. At present, there are 3-4 million new tumors in China every year, and an average of 6 people are diagnosed with cancer every minute. The incidence rat...

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Problems solved by technology

[0005] The deficiencies in the prior art are as follows: 1) When realizing gene sequence analysis, the data management method adopted is that each user is a human individual, and the gene sequence analyzed is also the user's own gene sequence, and each user can only access his own gene sequence. It cannot access other users' personal gene sequences and the gene library of standard use cases, and cannot link the user's personal medical record information with the gene sequence information, which is not conducive to the complete presentation of the user's personal health report; 2) Users are limited to uploading personal genes For sequence information, the user group is an individual. If the user is a doctor or a biomedical-related researcher, it is impossible to realize the statistical significance of exploring and viewing the distribution of the corresponding gene sequence. That is to say, this mode is only applicable to ordinary People viewing personal gene sequence analysis reports are not suitable for doctors and biomedical-related researchers to do research and analysis, and it is not conducive to transforming the results of gene sequence analysis into further scientific research results; 3) In existing technical solutions, often There is no complete annotation information for related genes, only a simple comparison of similarity values. Even most products on the market, such as Illumina's variants studio and GeneDock's analysis platform, also lack complete annotation information for problem genes, which cannot satisfy doctors and clinicians. The needs of researchers

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