Susceptible genotype detection method

Abstract

The invention discloses a susceptible genotype detection method, which can be used for diagnosing type I neurofibromatosis diseases. The method comprises the steps of collecting a to-be-detected sample, capturing an exon region sequence of the to-be-detected sample, and forming original sequencing data; obtaining a sequence meeting a quality requirement according to a quality detection result of each sequence in the original sequencing data, and forming preliminary adjustment data; performing comparison according to each sequence in the preliminary adjustment data and a reference genomic sequence to obtain a comparison result, and forming mutation detection data; determining a gene sequence with a mutation gene in the mutation detection data and a mutation site corresponding to the mutation gene; and performing functional annotation on the mutation site, and determining whether the to-be-detected sample contains a to-be-detected susceptible genotype or not. According to the susceptible genotype detection method, whether the mutation site of the to-be-detected mutation gene exists in the to-be-detected sample or not can be efficiently detected, thereby providing guidance for clinical diagnosis of the diseases and prenatal screening.

Description

technical field [0001] The invention relates to the technical fields of biological information, computer, medicine and genetics, in particular to a method for detecting a susceptibility genotype. Background technique [0002] The formation of neurofibromatosis type I (English: Neurofibromatosis type I, abbreviation: NF1) is related to the loss of expression of NF1 gene protein. feature. The penetrance rate of the disease is 100%, the prevalence rate is about 1 / 3000, and 30%-50% of the cases are caused by spontaneous mutation, which is one of the diseases with the highest mutation rate in humans. [0003] The high mutation rate of type I neurofibroma is due to the high mutation rate of NF1 gene, about 50% of patients are new mutations, and it runs through the entire NF1 gene. [0004] In recent years, most studies have focused on exploring the mutation hotspots of the NF1 gene, but this research direction urgently needs methods for rapid analysis and finding mutation sites....

AI Technical Summary

Problems solved by technology

For big data analysis, multi-disciplinary talents and the connection and operation of various software are required, and the operation process is cumbersome

At present, there is no method that can efficiently analyze whether there is a mutation site of the neurofibromatosis type I gene in the sample to be tested by using bioinformatics and big data analysis, and it is impossible to automate the process of finding the NF1 mutation site

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