Complex structure variation detecting method based on hybrid strategy

Abstract

The invention discloses a complex structure variation detecting method based on a hybrid strategy. The method comprises the steps of collecting and performing statistics on inserting fragment length distribution and chain direction information of a read pair in double-end sequencing, determining a read pair contrasting chain direction, an inserting fragment length and the read pair with an abnormal chromosome through two-end read segment contrasting; identifying breakpoints by means of a hybrid strategy of a double-end mapping method, a local assembling method and a split read segment method;wherein the breakpoints are coordinates on a pair of reference genome and are adjacent in a sample and are separated in the reference genome; updating breakpoint position information according to a contrasting result, and changing the breakpoint interval which records the structure variation breakpoint information to an accurate position; wherein the structure variation breakpoint information comprises a structure variation type, a breakpoint starting position and a support read segment number; and recording the contrast quality of the read pair and the read pair number of the support breakpoints, thereby finishing accurate structure variation identification. The complex structure variation detecting method improves variation detecting precision and supplies a checkout method for complex structure variations.

Description

technical field [0001] The invention belongs to the technical field of data science with the application background of precision medicine, and in particular relates to a complex structure variation detection method based on a mixed strategy. Background technique [0002] Cancer is currently the disease with the highest morbidity and mortality in China. In the past two decades, modern oncology, especially tumor genomics, has developed rapidly, resulting in precise diagnosis and treatment of tumors, which has greatly improved the five-year survival rate of cancer. The basis of precision treatment is to analyze and detect key gene mutations with high sensitivity, high specificity, and high efficiency. The efficacy of precision treatment greatly depends on the accuracy of data analysis. [0003] According to the definition of genomics, gene mutation can be divided into single nucleotide variation (English name: singlenucleotide variants, English abbreviation: SNV) and structura...

AI Technical Summary

Problems solved by technology

The pairwise combination strategy has improved the sensitivity and specificity of the software for low-frequency mutations to a certain extent, but it is still insufficient compared with clinical needs, and the problem of accurately detecting complex structural variations has not yet been solved

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