The present application relates to a tumor risk prediction method and device based on cfDNA
nucleosome fingerprint, belonging to the technical field of
in vitro diagnosis. Among them, the method comprises: obtaining
whole genome sequencing data of
plasma or serum cfDNA; the
whole genome sequencing data is subjected to
quality control processing to remove non-human sequences to obtain human cfDNA sequencing fragments; the human cfDNA sequencing fragments are aligned to the human
reference genome to obtain the genomic coordinates of each fragment and the coverage information thereof on the
reference genome; based on the whole
genome coverage
signal, the enrichment region identification
algorithm is used to determine the
nucleosome positioning boundary, and the peak
signal strength is taken as the
nucleosome positioning intensity
score; the nucleosome positioning intensity
score is input into the tumor risk prediction model which has been trained, and the prediction
risk probability of the subject suffering from tumor is output. Greatly improve the accuracy of noninvasive screening tumor prediction tumor risk, and the detection cost is low and the cycle is short.