Detection of tumor presence based on the methylation status of cell-free nucleic acid molecules

The system addresses the limitations of existing liquid biopsy methods by using composite genome and epigenome detection assays with machine learning to enhance cancer detection sensitivity through methylation pattern analysis, achieving accurate tumor fraction measurements and tracking tumor dynamics.

JP2026517626APending Publication Date: 2026-06-02GUARDANT HEALTH INC

Patent Information

Authority / Receiving Office
JP · JP
Patent Type
Applications
Current Assignee / Owner
GUARDANT HEALTH INC
Filing Date
2024-04-05
Publication Date
2026-06-02

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Abstract

The implementations described herein determine methylation information with respect to a reference genome classification region related to the presence of tumors in a subject. The methylation information can be analyzed using several computer techniques to provide metrics regarding the presence or absence of tumors in a given subject, including the determination of a tumor fraction. In other embodiments, the method includes the step of selecting subsets of several classification regions from one another. In other embodiments, the subsets of several classification regions include one or more cancer-specific regions derived from one another.
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