Patent ID: 11972841
Assignee: PERSONAL GENOME DIAGNOSTICS INC.
Field: Computer technology (Electrical engineering)
Classification: CPC G | IPC G

Claim 15:
16. A system for identifying somatic mutations from cell free DNA (cfDNA) isolated from a patient sample, comprising:
a computer system having a processor, memory and a plurality of lines of instructions; and
a machine learning classifier executed by the processor of the computer system, the machine learning classifier being configured to:
analyzing the patient sample by amplifying cfDNA from the sample to generate multiple copies of nucleic acid sequences and performing whole exome sequencing analysis and variant calling on the multiple copies of nucleic acid sequences to identify a candidate variant, wherein the identifying the candidate variant further provides features associated with the exome sequencing analysis and the variant calling;
evaluating the candidate variant and the features against a random forest classifier comprising at least one thousand decision trees trained to detect somatic mutations in the candidate variant, wherein each decision tree evaluates a unique combination of selected information supporting the candidate variant and classifies the candidate variant as somatic or not somatic, and wherein the machine learning classifier generates a confidence score that represents a proportion of the decision trees that would classify the candidate variant as somatic and a final classification of the candidate variant as somatic or not somatic based on the confidence score; and
generating, using the computer, a report that describes the candidate variant as somatic or not somatic based on the evaluating.