Methods and applications of gene fusion detection in cell-free DNA analysis

摘要

PROBLEM TO BE SOLVED: To provide a system and a method for determining gene fusion. A fusion read containing some sequencing data of a fusion chromosomal DNA molecule is determined; a predetermined point (cut point) on the genome to which at least one mapping portion of the fusion read is truncated is determined; Identifying two mapping lead portions from two cut points (pairs of cuts) as potential fusion candidates; creating one or more fusion sets based on the pair of cut points and creating one or more fusion sets. Clustering into fusion clusters; systems and methods for determining gene fusion are disclosed by identifying each fusion cluster that meets certain criteria as a gene fusion. [Selection diagram] None