This document summarizes research using the OncomineTM cfDNA assays and Ion Torrent next-generation sequencing to detect low frequency somatic variants in cell-free DNA from plasma. Key findings include:
1) The assays can detect variants at an allelic frequency of 0.1% with high sensitivity and specificity compared to digital PCR.
2) Variants observed in tumor tissue were also detected in matched plasma samples at lower frequencies.
3) The entire workflow from blood sample to results can be completed in 2 days, supporting use in a clinical laboratory setting.