Guardant Health, Inc.
SIGNIFICANCE MODELING OF CLONAL-LEVEL ABSENCE OF TARGET VARIANTS

Abstract:

Provided herein are methods of making negative predictions. In some aspects, methods of determining that a first target nucleic acid variant is absent at a first genetic locus in a cell-free nucleic acid (cfNA) sample obtained from a subject having a given cancer type at least partially using a computer are provided. Certain of these methods include determining that the first target nucleic acid variant is not detected in the cfNA sample obtained from the subject, generating, by the computer, at least one tumor fraction based value; generating, by the computer, at least one mutual exclusivity value; and determining that the first target nucleic acid variant is absent at the first genetic locus in the cfNA sample using the tumor fraction based value and/or the mutual exclusivity value. Additional methods and related systems and computer readable media are also provided.