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US 2022/0025468 A1Published application
Homologous recombination repair deficiency detection
AssigneeGuardant Health, Inc.
InventorsJennifer YEN, Elena HELMAN, Arielle YABLONOVITCH
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Abstract
Provided herein are methods of generating a homologous recombination repair deficiency (HRD) score, determining a reference HRD score, determining a HRD status of a test subject having one or more cancer types, and/or treating a disease based on HRD status. Additional methods as well as related systems, apparatuses, and computer readable media are also provided.
Claims32
A method comprising:
- determining sequence data for a biological sample, wherein the biological sample comprises cell free DNA (cfDNA);
- determining, based on the sequence data, coverage data;
- determining, based on the coverage data, one or more breakpoints associated with one or more fusion events;
- determining, based on the coverage data, one or more deletions associated with one or more genes;
- determining, based on the one or more breakpoints and the one or more deletions, a homologous recombination deficiency (HRD) score;
- and
- classifying, based on the HRD score, the biological sample as HRD positive.
4 more elements
-75. (canceled)
Dependencies are inferred from the claim text.