Analysis of fragmentation patterns of cell-free DNA

摘要

PROBLEM TO BE SOLVED: To provide a method for analyzing a fragmentation pattern of cell-free DNA. Factors that influence the fragmentation pattern of cell-free DNA (ie, plasma DNA) and applications of analysis of the cell-free DNA fragmentation pattern, including uses in molecular diagnostics, are described. In a variety of applications, the properties of the fragmentation pattern can be used to determine the proportional contribution of a particular genotype, such as in fetal tissue in a maternal sample or in a sample derived from a cancer patient. Tumor tissue) can be genotyped and / or preferred termination positions for a particular tissue type can be identified and then used to determine the proportional contribution of a particular tissue type. can. [Selection diagram] Fig. 1