METHOD FOR DETECTING CHROMOSOMAL STRUCTURAL ABNORMALITIES AND DEVICE THEREFOR

摘要

A method and a device for detecting chromosomal structural abnormalities are provided. The method comprises acquiring a whole genome sequencing result of a target individual, that is, multiple pairs of Reads located at two ends of chromosome fragments determined; aligning the sequencing result with a reference sequence, to obtain an abnormal match set, wherein the abnormal match set includes Read pairs that have two Read sequences matched respectively to different chromosomes of the reference sequence; clustering the Read sequences in the abnormal match set based on the positions matched thereto; and filtering the resultant clusters by using, for example, preset requirements associated with compactness and others, and obtaining the filtered result clusters, for determining the occurrence of translocation-type chromosomal structural abnormity.