A Deletion Variation Identification and Clonal Counting Method for Complex Clonal Structure of Tumors

Abstract

The invention discloses a method for identification of deletion variation and clone counting of complex clonal structures of tumors. Firstly, a deletion identification method (such as the DELLY method) is used to determine the scope of all regions related to deletion mutations; Combined strategy with the longest variable split read to identify missing breakpoints, and get a set of candidate breakpoints for drifting deletions; then distinguish drifting deletions and fixed deletions according to the number of breakpoint pairs, and for fixed deletions, use the greedy strategy to identify confusion around the deletion The single nucleotide variation sites of each subclone were separated step by step; finally, the number of clones was obtained, and the identification results of drift deletions were further optimized based on the information of the number of clones. The present invention (Project Nos. 20180550161, 20180550855) can not only identify drift deletion mutations in clonal evolution, but also identify chaotic single nucleotide mutations caused by clonal differentiation, providing another detection approach for the study of clonal patterns.

Description

technical field [0001] The invention belongs to the technical field of data science oriented to precision medicine, and relates to a method for identifying deletion variation and clone counting of complex clonal structures of tumors. Background technique [0002] In recent years, the implementation of large-scale projects such as the Cancer Genome Project (Cancer Genome Project), The Cancer Genome Atlas (TCGA), International Cancer Genome Consortium (ICGC) and the Precision Medicine Project has greatly promoted Research and development of tumor genomics. In addition, the massive omics big data generated by high-throughput sequencing technology has laid a research foundation for the study of human gene functions, disease mechanisms, and precision medicine. Assure. [0003] Tumors are formed by the gradual accumulation of genetic mutations. Gene mutation is the mutation of some small molecules or small molecule fragments in the macromolecule of DNA sequence, which leads to ...

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Problems solved by technology

[0008] In view of the deficiencies in the above-mentioned prior art, the present invention provides a deletion mutation identification method for the complex clonal structure of tumors based on the consideration of the heterogeneity of tumor structure, and according to the identified deletion mutation information and the single Nucleotide variation information realizes clone number statistics

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