Methods for identifying and / or detecting somatic variants
By partitioning DNA into hypermethylated and hypomethylated subsamples and performing error-correcting sequencing, the method addresses noise issues in cancer detection, enhancing the accuracy and cost-effectiveness of somatic variant identification.
WO2026136937A1PCT designated stage Publication Date: 2026-06-25GUARDANT HEALTH INC
Patent Information
- Authority / Receiving Office
- WO · WO
- Patent Type
- Applications
- Current Assignee / Owner
- GUARDANT HEALTH INC
- Filing Date
- 2025-12-19
- Publication Date
- 2026-06-25
AI Technical Summary
Technical Problem
Existing cancer detection methods face challenges in accurately identifying somatic variants due to technical and biological noise, particularly in tumor-informed assays, which are costly, and tumor-naive methylation-only assays suffer from biological noise limitations.
Method used
A method involving partitioning DNA into hypermethylated and hypomethylated subsamples, performing error-correcting sequencing library preparation on the hypermethylated subsample, and sequencing to identify somatic variants with high stringency.
Benefits of technology
This approach enhances the detection of somatic variants by mitigating noise and improving the accuracy and cost-effectiveness of cancer tests, including minimum residual disease monitoring.
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Smart Images
Figure US2025060742_25062026_PF_FP_ABST
Abstract
The disclosure relates to methods for detecting somatic variants in the DNA of a subject having or suspected of having a disease or disorder, such as cancer. In some embodiments, the method for detecting somatic variants comprises partitioning the sample into at least a hypermethylated subsample. In some embodiments, the methods further comprise performing error-correcting sequencing library preparation using DNA from the sample or hypermethylated subsample thereof. In some embodiments, the method for detecting somatic variants comprises high stringency identification of somatic variants. In some embodiments, the methods provided herein are used determine the presence of minimum residual disease.
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