A method and system for intelligently interpreting and reporting genetic variation of monogenic diseases

A technology of genetic variation and single-gene disease, applied in the field of digital medical care, can solve problems such as retention, hindering product and technology promotion, and low efficiency, and achieve the effects of reducing workload, facilitating promotion, and improving efficiency

Active Publication Date: 2018-12-25
国家卫生健康委科学技术研究所
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  • Abstract
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  • Claims
  • Application Information

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Problems solved by technology

[0003] However, at the application level of precision medicine, there are still many problems in data analysis and clinical interpretation based on next-generation sequencing technology. For example, the existing genetic testing services can only provide basic basic data analysis. At the level of scientific research, genetic variation cannot be directly identified and interpreted. Therefore, it is necessary for professional doctors to analyze and

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  • A method and system for intelligently interpreting and reporting genetic variation of monogenic diseases
  • A method and system for intelligently interpreting and reporting genetic variation of monogenic diseases

Examples

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Embodiment 1

[0066] figure 1 It is a schematic flowchart of the method for intelligent interpretation and reporting of genetic variation of single-gene disease in Example 1 of the present invention. see figure 1 , this embodiment provides a method for intelligent interpretation and reporting of genetic variation in single-gene diseases, including:

[0067] Obtain the genetic sequence data, and carry out attribute marking on the genetic sequence data; wherein, when the genetic detection mode is the single-sample detection mode, the genetic sequence data is the genetic sequence data of a group of persons to be tested, and when the genetic detection mode is the family detection mode, the genetic The sequence data is the genetic sequence data of one group of testees and at least one group of immediate relatives of the testees;

[0068] Sequence comparison of each set of gene sequence data with the human reference genome to obtain a corresponding number of comparison data;

[0069] Obtain th...

Embodiment 2

[0168] see figure 1 and figure 2 , this embodiment provides a system for intelligent interpretation and reporting of genetic variation in single gene diseases, including:

[0169] Including detection mode setting unit 1, gene sequence data comparison unit 2, identification and function prediction unit 3, annotation and genetic pattern analysis unit 4, pathogenicity grading unit 5, impact scoring unit 6, pathogenicity scoring unit 7 and Pathogenic mutation recommendation unit 8;

[0170] The detection mode setting unit 1 is used to obtain gene sequence data, and carry out attribute marking on the gene sequence data; wherein, when the gene detection mode is a single-sample detection mode, the gene sequence data is the gene sequence data of a group of persons to be tested, and the gene When the detection mode is the family detection mode, the genetic sequence data is the genetic sequence data of one group of persons to be tested and at least one group of immediate relatives of...

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Abstract

The invention discloses a method and a system for intelligently interpreting and reporting the genetic variation of a single gene disease, which can automatically analyze the genetic variation resultbased on the original sequence data of a gene of a patient, and provide a professional genetic variation analysis report, thereby improving the diagnosis and treatment efficiency of the genetic variation. The method comprises the following steps of: gene sequence data is acquired and attribute marking is performed on the gene sequence data; sequence alignment of each set of gene sequence data withhuman reference genome is performed to obtain corresponding amount of alignment data; based on the length information of genetic variation, the variation type is identified, and the variation function is predicted based on the position information and base change information of genetic variation. According to the identification results of each genetic variation type, the gene and population frequencies of genetic variation were annotated, and the family genetic pattern was judged when the family detection mode was used. The system comprises the method proposed in the technical proposal.

Description

technical field [0001] The invention relates to the technical field of digital medical care, in particular to a method and system for intelligently interpreting and reporting genetic variation of single-gene diseases. Background technique [0002] The application of next-generation sequencing technology in the study of pathogenic mutations and medical practice of single-gene diseases is becoming more and more extensive. In recent years, a large number of studies have confirmed that whole exome sequencing is one of the ideal methods for carrying out research on single gene diseases, identifying pathogenic mutations and molecular diagnosis of patients with single gene diseases. [0003] However, at the application level of precision medicine, there are still many problems in data analysis and clinical interpretation based on next-generation sequencing technology. For example, the existing genetic testing services can only provide basic basic data analysis. At the level of sci...

Claims

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Application Information

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IPC IPC(8): G06F19/22G06F19/18G06F19/24
Inventor 马旭曹宗富喻浴飞陈翠霞蔡瑞琨李乾高华方
Owner 国家卫生健康委科学技术研究所
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