A method for determining the grading of genetic tumor mutation sites

Abstract

The invention discloses a method for judging genetic tumor variation site classification, and a kit used for performing genetic tumor variation site classification on a to-be-tested person. The kit comprises the following components: a component B, a component C, a component D, a component E, a component F, a component G and a component H, wherein the component B is a reagent or a kit used for performing library preparation and combination on genomic DNAs of the to-be-tested person; the component C is a device used for performing DNA sequencing; the component D is a data analysis system used for performing data analysis on a DNA sequencing result; the component E is snpEff software; the component F is a KGGseq software platform; the component G is an HGMD database; and the component H is a Clinvar database. The method and the kit have the advantages that the database is authoritative, reliable and comprehensive; and the judgment method refers variation site explanations of American medical genetics and genomics society, molecular pathology society, American pathologist society and the like, and has scientificity and forwardness.

Description

technical field [0001] The invention relates to a method for judging the grading of genetic tumor mutation sites. Background technique [0002] Hereditary tumors refer to the types of tumors that are caused by specific pathogenic gene mutations and have familial clustering, accounting for about 5-10% of cancers. For such tumors, genetic testing methods are the most effective way to diagnose and predict the risk of tumor onset. Genetic testing is to use sequencing technology to determine whether a patient carries the mutation of a gene related to the onset of hereditary tumors, or to check the relatives of patients with hereditary tumors to find out the carriers of the mutation gene and make a genetic diagnosis of hereditary tumors. Provide cancer prevention and treatment counseling and individualized preventive measures before onset. [0003] With the rapid development of high-throughput sequencing technology, different research institutions continue to develop new genetic ...

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Problems solved by technology

However, this criterion cannot be directly applied to the interpretation of genetic testing results

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