Annotation method for analyzing genome centromere region structure

Through heuristic strategies and graph theory analysis, combined with sliding windows and adjacency matrices, the accuracy and efficiency problems of genomic centromere region annotation in existing technologies are solved, and efficient and accurate identification of repeat units and HORs is achieved.

CN120766780APending Publication Date: 2025-10-10烟台市疾病预防控制中心(烟台市卫生监督所、烟台市预防医学研究所、烟台市食品安全风险评估中心、烟台市卫生检测检验中心)
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Patent Information

Application Number
CN202510877033.2
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Priority Date
2024-06-28
Filing Date
2025-06-27
Publication Date
2025-10-10

AI Technical Summary

Technical Problem

Existing genomic centromeric region annotation methods have difficulty accurately identifying repeat monomers and higher-order repeat sequences (HORs), are particularly limited in applicability in non-model organisms, and require known monomer templates.

Method used

A heuristic strategy combining graph theory and sliding window strategy was adopted to identify tandem repeat units and infer HORs through adjacency matrix analysis, and string decomposition algorithm and clustering technology were used for accurate annotation.

Benefits of technology

It achieves accurate identification of tandem repeat units and HORs without the need for prior information, improving analysis efficiency, and is 10 times faster than existing tools, with significantly improved accuracy and low resource utilization.

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Abstract

The invention discloses an annotation method for analyzing a genome centromere region structure, and belongs to the technical field of biological genes. And prerequisites are needed. The method comprises the following steps: firstly, analyzing repetitive monomers of a centromere sequence based on a heuristic strategy, and judging the centromere sequence; when the serial repetition units are identified, an adjacent matrix is obtained based on serial repetition unit information, the analysis problem of the HORs is converted into a graph theory problem of searching a specific structure in the adjacent matrix, and a sliding window strategy is combined to refine the structure analysis result of the HORs. Compared with the prior art, the method has the advantages that the length of the tandem repeat unit can be detected more accurately, and the defect that two continuous tandem repeat units are identified as a single tandem repeat unit by TRASH is effectively overcome. The method has an obvious efficiency advantage. When a human genome centromere area is analyzed, the method is 10 times faster than a current method while the precision is guaranteed.
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