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Automated interpretation system for genetic mutation of aortic disease (HTAADVar)

A disease and family technology, applied in the field of bioinformatics analysis, can solve the problems that the accuracy depends on the interpretation evidence, and the interpretation efficiency has not been greatly improved, so as to improve the interpretation efficiency, reduce the manpower input, and achieve the effect of high consistency of detection rate

Active Publication Date: 2022-07-22
FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, although the above-mentioned interpretation tools take into account some characteristics of diseases and genes, and the interpretation results are improved compared with general tools, they are all semi-automatic interpretation tools. The interpretation process mainly obtains public data from ClinVar and gnomAD, and the accuracy of the interpretation results It is highly dependent on the interpretation evidence input by the user, and the interpretation efficiency has not been greatly improved, and the bottleneck problem in interpretation has not been solved.

Method used

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  • Automated interpretation system for genetic mutation of aortic disease (HTAADVar)
  • Automated interpretation system for genetic mutation of aortic disease (HTAADVar)
  • Automated interpretation system for genetic mutation of aortic disease (HTAADVar)

Examples

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Embodiment 1

[0062] Example 1 Construction of HTAAD mutation database

[0063] This application innovatively provides a disease-specific genetic mutation automatic interpretation method and system. By constructing a genetic mutation database of disease-related genes, automatic interpretation is realized based on interpretation specifications and threshold strategies, which is to solve many existing bottlenecks in clinical interpretation. An efficient protocol is proposed and implemented within the framework of aortic disease.

[0064] This embodiment takes aortic disease HTAAD as an example, and constructs the following automatic interpretation system, which specifically includes the following steps:

[0065] Step 1. Data retrieval and gene determination

[0066] Search all published literatures included in the PubMed database, and identify disease-related genes, such as aortic aortic disease HTAAD, based on HTAAD genetic research data, gene and disease functional research data, and clini...

Embodiment 2

[0095] Example 2 Establishment of an automated interpretation system

[0096] This embodiment further builds an automated interpretation system on the basis of the database

[0097] Step 1. Identify basic norms for mutation interpretation

[0098] In 2015, ACMG / AMP formulated standards and guidelines for the interpretation of genetic disease mutations, and then the ClinGen SVI expert group put forward more specific and detailed guidance and recommendations for the application of some standards in the guidelines. Under the above-mentioned guidelines and frameworks, the present application formulates basic interpretation specifications for HTAAD disease and gene-specificity based on both.

[0099] Exemplarily, the detailed rules and general implementation methods are shown in Table 10. The features of this interpretation specification include: 1) Incorporate the latest interpretation guide of PVS1 and propose specific implementation algorithms, which make up for the shortcoming...

Embodiment 3

[0113] Embodiment 3 Interactive website development and local program operation mode based on automatic interpretation system

[0114] In order to help users better browse mutation database information and interpret mutations interactively, this application builds an interactive website (http: / / htaadvar.fwgenetics.org) with powerful browsing, query and interpretation functions. The website pages mainly include the home page, gene details page, mutation page, literature page, interpretation page and help page, etc. (see figure 2 ). Among them, the home page contains a brief introduction of the system and basic search functions. Users can enter relevant information about genes, mutations and literature in the search box to query; the gene page includes a gene overview page and a gene annotation page, the former provides 18 genes. Basic information and mutation statistics grouped by gene exons and domains, the latter gives relevant annotation information of the current gene, in...

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Abstract

The invention relates to the field of bioinformatics analysis, and particularly provides a hereditary aortic disease (HTAAD) mutation automatic interpretation system and a construction method thereof, and by constructing a disease-related gene genetic mutation database, automatic interpretation of diseases is realized based on interpretation specifications; compared with a traditional method, the automatic interpretation system has the advantages of being high in interpretation efficiency, good in flexibility, high in sensitivity, good in specificity, high in accuracy and the like, and has a good clinical application prospect.

Description

technical field [0001] The present application belongs to the technical field of bioinformatics analysis, and in particular relates to an automatic interpretation system for HTAAD disease mutation and a construction method thereof. Background technique [0002] With the rapid development of next-generation sequencing technology, genetic testing has been widely used in clinical practice, which can assist in molecular diagnosis of genetic diseases, disease screening in high-risk groups, and fertility guidance. In order to accurately assess the clinical pathogenicity of mutations, in 2015 the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed mutation interpretation standards and guidelines for genetic diseases, which greatly promoted the standardization of clinical interpretation. sex. However, since the ACMG / AMP guidelines do not clearly stipulate the details and parameters of each evaluation standard, differe...

Claims

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Application Information

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IPC IPC(8): G16H50/20G16H50/30G16H50/80
CPCG16H50/20G16H50/30G16H50/80
Inventor 周维真张玉晶
Owner FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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