Whole genome repeat landscape in cancer and cell-free DNA

The ARTEMIS method, by analyzing k-mers in nucleic acid sequences, identifies and assesses various repetitive sequence types across the entire genome, addressing the shortcomings of existing technologies in identifying cancer-related genomic changes and enabling precise cancer diagnosis and personalized treatment.

CN122074154APending Publication Date: 2026-05-22JOHNS HOPKINS UNIVERSITY
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Patent Information

Application Number
CN202480065983.9
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Priority Date
2023-08-14
Filing Date
2024-08-14
Publication Date
2026-05-22

AI Technical Summary

Technical Problem

Existing technologies are insufficient for effectively analyzing and monitoring complex repetitive sequences in the human genome, especially in cancer-related genomic changes, leading to inadequate research on these key regions.

Method used

A method called ARTEMIS is provided that identifies and evaluates various repetitive sequence types across the entire genome, including satellite DNA, RNA elements, LINE, SINE, LTR, etc., by analyzing k-mers in nucleic acid sequences. It then uses machine learning and epigenetic analysis to generate scores for cancer diagnosis and treatment.

Benefits of technology

It enables precise diagnosis and monitoring of cancer-related genomic changes, provides new methods for cancer diagnosis and treatment, improves the ability to identify repetitive sequence changes, and supports personalized treatment decisions.

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Abstract

Compositions and methods for analyzing repetitive sequences in the genome are provided, which are used in methods for large scale analysis of these regions for characterization, detection, and monitoring of human cancer.
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