Guardant Health, Inc.
METHODS FOR CLASSIFYING GENETIC MUTATIONS DETECTED IN CELL-FREE NUCLEIC ACIDS AS TUMOR OR NON-TUMOR ORIGIN

Abstract:

Provided herein are methods of differentiating tumor and non-tumor origin nucleic acid variants in cell-free nucleic acid (cfNA) samples. Certain of these methods include generating a tumor variant dataset comprising a population of reference tumor-related genetic variants in which the tumor variant dataset comprises frequency of observance data among reference samples that comprises reference bodily fluid (e.g., plasma) samples and reference non-bodily fluid (e.g., non-plasma) samples for tumor-related genetic variants in the population of reference tumor-related genetic variants and determining ratios of the frequency of observance data between the reference samples for tumor-related genetic variants in the population of reference tumor-related genetic variants to produce a relative prevalence dataset. Additional methods and related systems and computer readable media are also provided.