High-throughput sequencing variation risk grouping and screening method

Abstract

The invention provides a high-throughput sequencing variation risk grouping and screening method. The method comprises the following steps: setting pathogenicity high-risk variation screening conditions, and screening gene data according to the pathogenicity high-risk variation screening conditions; setting pathogenicity high-risk variation screening conditions and medium-risk variation screening conditions with extremely low crowd frequency, and screening the gene data; setting pathogenicity medium-high risk variation screening conditions, and screening the gene data; setting gene variation screening conditions of pathogenicity medium and high risk autosomal dominant heredity, and screening the gene data; setting conditions of pathogenicity medium-high-risk autosomal recessive inheritance and the same gene, and screening the gene data; setting variation screening conditions of high-risk sex-linked inheritance in pathogenicity, and screening the gene data; and setting screening conditions for determining pathogenicity variation or suspicious pathogenicity variation with high risk in pathogenicity, and screening the gene data.

Description

technical field [0001] The invention relates to the technical field of high-throughput sequencing, in particular to a high-throughput sequencing variation risk grouping screening method. Background technique [0002] Human nuclear gene-related diseases can be divided into autosomal dominant genetic diseases (AD genetics), autosomal recessive genetic diseases (AR genetics) and sex-linked genetic diseases according to the mode of inheritance. The application of gene sequencing technology is an important means to find the genetic cause of diseases. [0003] High-Throughput Sequencing technology (High-Throughput Sequencing), also known as Next-Generation Sequencing technology (Next-Generation Sequencing), is a kind of gene sequencing technology. Its typical feature is that it can detect thousands of genes at a time. Compared with Sanger sequencing, which can only measure a few hundred bases at a time, the pass is greatly increased, and a large amount of data will be generated a...

AI Technical Summary

Problems solved by technology

There is a published patent using phenotypic screening of specific samples (patent number: CN202010035599.8). This screening method can only be used for the screening of specific samples. The specificity is high, but the sensitivity is reduced.

[0005] The existing screening methods only screen in a specific way, and the screened variants cannot be screened in other ways, which greatly increases the possibility of missing high-risk variants under other conditions. Since it is not a grouping method, it cannot take into account other screens logic

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