Method for detecting chromosomal structural abnormalities and device for this

摘要

Computer-implemented method for detecting chromosomal structural abnormalities, comprising: acquiring a sequencing result of the entire genome of a target individual or target individuals, wherein the sequencing result includes multiple pairs of reads, each pair of reads consisting of two sequences readings located respectively at two ends of a given chromosome fragment, and each pair of reads is derived separately from the positive and negative strands of the corresponding chromosome fragment, or both the positive and negative strands of the corresponding chromosome fragment ; aligning the sequencing result with a reference sequence, to obtain a mismatch set, in which the mismatch set includes a first type of read pairs in which the two read sequences in the first type of pair of reads reads are respectively paired with chromosomes different from the reference sequence; grouping the read sequences into the mismatch set based on their paired positions, where each cluster contains single-ended read sequences from a group of read pairs, and the read sequences from the other end corresponding reside in another grouping; filter the clusters resulting from the clustering, including calculating the compactness of each cluster and filtering out clusters that have a compactness that does not meet a preset compactness requirement (R-va) and clusters paired with them, where the compactness is indicates by variance, in which the variance of the position of each reading in a cluster with respect to the center or center of gravity of the cluster is calculated, and in which the smaller the variance, the greater the compactness; and obtaining the filtered result groupings containing the first type of reading pairs, and based on said filtered result groupings determining the occurrence of translocation-type chromosomal structural abnormality.