Abstract: The present invention relates to a DNA classification method, comprising calculating the MHL value of a DNA methylation haplotype block and/or the DNA copy number variation data of a sample of interest; calculating the similarity between the MHL value of the DNA methylation haplotype block of the sample of interest DNA and the MHL value of a DNA methylation haplotype region of a respective classification label, and/or the similarity between the copy number variation data of the sample of interest DNA and the DNA copy number variation data of a respective classification label; and determining a classification for the DNA in the sample of interest by using a classifier model and based on the similarity. The present invention provides new means with good specificity and sensitivity for detection of tumors in the urogenital system.

Abstract: The invention pertains to the field of genomics and bioinformatics, and relates to a cfDNA classification method, apparatus and application. Specifically, the present invention relates to a cfDNA classification method, comprising: calculating a copy number variation data of cfDNA in a target sample; calculating a similarity degree between the target cfDNA copy number variation data and the cfDNA copy number variation data of each category label; and determining the category to which the target cfDNA belongs according to the similarity degree by using a classifier model. The invention can realize the diagnosis of up to 3 types of urogenital system tumors at one time, and has high sensitivity and specificity. In particular, in the diagnosis and dynamic monitoring of urothelial cancer, the sensitivity and specificity are higher than those of the current clinical detection methods.