CANCER TISSUE SOURCE OF ORIGIN PREDICTION WITH MULTI-TIER ANALYSIS OF SMALL VARIANTS IN CELL-FREE DNA SAMPLES

摘要

A predictive cancer model generates a prediction of cancer tissue source of origin for a subject of interest by analyzing values of one or more types of features that are derived from cfDNA obtained from the individual. Specifically, cfDNA from the individual is sequenced to generate sequence reads using one or more physical assays, examples of which include a small variant sequencing assay. The sequence reads of the physical assays are processed through corresponding computational analyses to generate small variant features and other features. The values of features can be provided to a prediction model that generates a prediction of cancer tissue source of origin and/or cancer presence.