Non-invasive prenatal screening, detection of neonatal genetic diseases such as congenital hypothyroidism and phenylketonuria.
To determine its utility in the detection of HCC, we assessed the HCCscreen assay in the individuals who have a known diagnosis of HCC or have been excluded (non-HCC). We obtained 65 HCC cases and 70 non-HCC cases from the AFP/US-positive/suspected individuals. This HCC-positive or HCC-negative status was based on dynamic CT/MRI imaging and histologic confirmation.
These 135 cases were used as the training cohort, and the HCCscreen results were compared with the clinical diagnosis. To build a classifier integrating different types of biomarkers in the assay, we first collapsed the different types of cfDNA mutations into a region of interest (ROI) score for each gene or locus (see Methods). The ROI score was a weighted sum of the damaging effects and frequency for each point mutation within a ROI.