CLASSIFIER MODELS TO PREDICT TISSUE OF ORIGIN FROM TARGETED TUMOR DNA SEQUENCING

摘要

Disclosed are systems and methods for using genomic features revealed by clinical targeted tumor sequencing to predict of tissue of origin. Using machine learning techniques, an algorithmic classifier is constructed and trained on a large cohort of prospectively sequenced tumors to predict cancer type and origin from DNA sequence data obtained at the point of care. Genome-directed re-assessment of classifications may prompt tumor type reclassification resulting in altered cancer therapy. The clinical implementation of artificial intelligence to guide tumor type classifications at the point of care can complement standard histopathology and imaging to enable improved classification accuracy.