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