A system for intelligent interpretation of tumor individualized gene detection

A gene detection and tumor technology, applied in genomics, used to analyze two-dimensional or three-dimensional molecular structures, instruments, etc., can solve the problems of lack of unity, lack of rigor, low efficiency, etc., to overcome low efficiency and low quality, improve Efficiency and accuracy, to achieve the effect of full automation

Active Publication Date: 2020-06-19
SHENZHEN HUADA GENE INST
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  • Abstract
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Problems solved by technology

[0003] 1) Limitation of manual knowledge accumulation: Some products have a one-sided interpretation range, cannot rely on large-scale evidence-based medical evidence, and mainly rely on manual collection of knowledge. On the one hand, the efficiency is low, and on the other hand, the reliability and real-time nature of the evidence cannot be fully reflected
2) Limitations of interpretation of mutation information: currently some interpretation products are mostly focused on DNA variation analysis of tumors (mainly single-base mutation SNV, insertion-deletion mutation INDEL, copy number variation CNV, gene fusion), and some involve to RNA variation
These interpretation results are not comprehensive enough, nor rigorous enough, there is no uniform standard, relying on the knowledge level and experience level of the interpreters, it is easy to form deviations
In the face of large-scale and diverse sequencing data, it often appears powerless, and cannot provide batches of effective and high-quality services for testers

Method used

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  • A system for intelligent interpretation of tumor individualized gene detection
  • A system for intelligent interpretation of tumor individualized gene detection
  • A system for intelligent interpretation of tumor individualized gene detection

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Embodiment

[0076] In a specific embodiment of the present invention, the construction information of the tumor individualized interpretation system database is shown, which is mainly reflected in: collecting and extracting various information from various public websites, mining information from public literature databases, and entering and interpreting the database database. The database involves the approved drugs for tumor treatment from 1949 to 2017 so far, and the treatment information of clinical trials approved over the years; the gene information related to tumor pathways comes from the literature database and KEGG data, and the important genes of 12 important pathways are screened; Mutation-related information came from the COSMIC database, and the mutation information with a statistical population > 20 was selected; tumor suppressor / oncogene information came from the literature database. In addition, the interpretation and classification of genes come from literature and other ...

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Abstract

The invention relates to a system used for intelligently analyzing the individualized tumor gene detection. The system comprises a test platform, a knowledge base platform, a cloud computing platform and a terminal entry platform. After a collected biological sample is subjected to computer sequencing through the test platform, the sequencing data is transmitted to the cloud computing platform, and meanwhile, after a user inputs sample information and analysis requirements on the terminal entry platform, the information is transmitted to the cloud computing platform; the knowledge base platform is used for collecting analysis knowledge data; the sample sequencing data is subjected to biological information analysis through the cloud computing platform, and after calling the data analysis in the knowledge base platform, the cloud computing platform transmits the generated analysis report to the terminal entry platform; report downloading and feedback are conducted through the terminal entry platform. By means of the system, more accurate treatment information can be better provided for patients according to the individualized tumor analysis of large-scale sequencing results, and the treatment cost is saved.

Description

technical field [0001] The invention relates to a gene detection and interpretation system, in particular to a system for intelligent interpretation of tumor individualized gene detection. Background technique [0002] With the development of personalized tumor precision treatment, many institutions at home and abroad provide such medical technology services. There are companies like Foundation One that provide detection and interpretation services at the same time, and companies that provide detection or interpretation alone. For example, Ampliseq mainly provides tumor For testing services, N-of-one mainly provides interpretation services. It started relatively late in China, and most tumor interpretations are still in the process of manually collecting data, or using foreign technical services. In general, there are still very few companies that can combine large-scale detection data to provide personalized tumor knowledge interpretation services for big data, and the exi...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20G16B20/50G16B15/30
CPCG16B30/00
Inventor 安娜朱师达王慧邵利彬邓建莲薛思鸣谢颖郑甜语
Owner SHENZHEN HUADA GENE INST
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