Single-sample-based next-generation sequencing tumor somatic mutation detection device

Abstract

One embodiment of the invention provides a single-sample-based next-generation sequencing tumor somatic cell variation detection device. The single-sample-based next-generation sequencing tumor somatic cell variation detection device includes a data acquisition module for acquiring sequencing data, the sequencing data comprising two blood samples of at least the same tumor and at least one tumor tissue sample; a data comparison module for comparing the sequencing data with a preset reference genome to obtain compared data; and a variation detection module for carrying out variation detection on the compared data and determining a somatic cell variation site and base variation of the tumor tissue sample. The technical scheme of the single-sample-based next-generation sequencing tumor somatic cell variation detection device carries out variation detection on the at least two blood samples so as to be combined into a variation background library, then filters reproductive variation by applying the variation background library in tumor tissue sample variation detection to obtain tumor-specific somatic variation, and detects the somatic variation of the tumor tissue sample under the condition that no paired sample exists, so that the false positive of tumor somatic variation detection is reduced.

Description

technical field [0001] The embodiments of the present invention relate to the technical field of tumor detection, and in particular to a single-sample-based next-generation sequencing tumor somatic mutation detection device. Background technique [0002] Somatic mutations are very important molecular markers in early diagnosis of tumors, prognosis monitoring of tumor drug targets and treatments. In next-generation sequencing technology, the capture sequencing of whole exons or specific gene regions at the DNA level is widely used in the detection of somatic mutations in tumors, and there are various methods for detecting somatic mutations in tumors. At present, the detection of somatic cell mutations in tumors generally requires blood samples and tissue samples from the same individual. Reproductive mutations cannot be removed in the detection of somatic cell mutations with only tumor tissue samples, resulting in too many false positives for somatic cell mutations, and there...

AI Technical Summary

Problems solved by technology

At present, the detection of somatic cell mutations in tumors generally requires blood samples and tissue samples from the same individual. Reproductive mutations cannot be removed in the detection of somatic cell mutations with only tumor tissue samples, resulting in too many false positives for somatic cell mutations, and there are many detection steps and a single function. , poor system and portability

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