A Breakpoint-Centric Approach for Chromosomal Structural Variation Identification

Abstract

The invention relates to a method for identifying chromosome structure variation centered on breakpoints. In particular, the present invention relates to a computer-implementable breakpoint-centric method for identifying structural variations in chromosomes. The invention also relates to a computer system or apparatus for implementing the method, and a computer-readable medium storing a computer program capable of implementing the method.

Description

technical field [0001] The invention relates to the field of nucleic acid sequencing. The invention relates to a method for identifying chromosome structure variation centered on breakpoints. In particular, the present invention relates to a computer-implementable breakpoint-centric method for identifying structural variations in chromosomes. The invention also relates to a computer system or apparatus for implementing the method, and a computer-readable medium storing a computer program capable of implementing the method. Background technique [0002] Chromosomal structural variation refers to changes in the original genome sequence and structure of chromosomes, such as insertions, deletions, inversions, translocations, etc., resulting in new chromosome structures. Chromosomal structural variation often occurs in tumor cells, such as EML4-ALK gene fusion phenomenon, EGFR kinase domain duplication, etc. Detection of chromosomal structural variation has important clinical s...

AI Technical Summary

Problems solved by technology

The difficulty of the former is that the assembly process consumes a lot of resources and the accuracy of the assembly result is low, resulting in low detection sensitivity and specificity. The difficulty of the latter is that without the reads with secondary alignment results, it is impossible to identify the structural variation. Specific breakpoints, as well as the fact that this method misses some reads that support structural variation, and because a large number of false positive reads with secondary alignment results will inevitably be generated during the library construction process, etc., resulting in the detection of this method Sensitivity and specificity are still insufficient

[0008] In order to solve the problems existing in the aforementioned methods, such as possible loss of reads supporting structural variations, low detection sensitivity for low-frequency structural variations, and low specificity in detection results, the present invention provides a detection method centered on structural variation breakpoints , which can significantly improve the performance of genome structure variation detection

Images