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

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...

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