Tumor cloning mutation detection method and device based on next-generation sequencing and memory medium

Abstract

The invention discloses a tumor cloning mutation detection method and device based on next-generation sequencing and a memory medium. The method provided by the invention comprises the steps of carrying out mutation detection on a comparison file of paired tumor and normal samples through utilization of mutation detection software, computing a mutation frequency, and selecting segments with high sequencing quality as a statistics result; carrying out copy number and purity detection on the paired tumor and normal samples through utilization of purity detection software; combining small segments into big segments, and annotating the copy number in a mutation area; and computing a proportion of the mutation in a tested tumor tissue through utilization of a beta distribution model according to tumor sample purity and copy number detection results, thereby judging a tumor cloning mutation type. According to the method provide by the invention, influences of the sample purity and multiploidon the detection are avoided, the mutation type detection is relatively accurate, the subcloning mutation with clinical significance can be effectively identified, and the foundation for accurately and deeply researching a tumor cloning evolution process and searching a tumor therapy molecular mechanism is laid.

Description

technical field [0001] The present application relates to the field of tumor detection, in particular to a method, device and storage medium for detecting tumor clonal variation based on next-generation sequencing. Background technique [0002] Tumors are diseases caused by mutations in the genome. The occurrence of tumors is accompanied by a large number of genomic mutations, which can be divided into two types of tumor clonal mutations according to the time of occurrence, namely clonal mutations and subclonal mutations. Clonal mutations occur in the early stage of tumors and exist in most tumor cells; subclonal mutations occur in the later evolution of tumors and exist in a small subset of tumor cells. These clonal mutations and subclonal mutations constitute the heterogeneity within the tumor, which is related to tumor evolution, metastasis, recurrence, and drug resistance. [0003] At present, the technologies that can be used in the study of tumor clonality include: n...

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Problems solved by technology

However, these methods cannot accurately detect tumor clonal mutation types, and are difficult to be directly used in the development of targeted drugs for second-line treatment or clinical drug guidance

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