| 摘要 |
Disclosed are a method for detecting chromosomal structural abnormalities and a device therefor, the method comprising: obtaining the whole genome sequencing result of a target individual, i.e. multiple pairs of read pairs positioned at both ends of the chromosome fragment to be measured; aligning the sequencing result with the reference sequence to obtain an abnormal matching set, including two read sequences respectively matched to read pairs of different chromosomes of the reference sequence; clustering the read sequences in the abnormal matching set into clusters according to the locations matched; and filtering the clusters obtained by clustering using pre-set requirements, such as one related to the degree of compactness, to obtain a filtered result cluster for judging the occurrence of chromosome translocation structural abnormalities. |
