METHODS AND SYSTEMS FOR DETECTING GENOMIC STRUCTURE VARIATIONS

摘要

The invention discloses methods and systems for detecting genomic structure variations. One method includes: an assembling procedure in which a sequencing sequence is assembled into a scaffold sequence; a comparison procedure in which a comparison result containing variation information is obtained through an overall pair-wise comparison between the scaffold sequence and a reference genome; and an extraction procedure in which the variation information is extracted from the comparison result containing the variation information. A whole genome sequencing result is assembled in the invention so as to obtain a personal specific genome irrelative to the reference genome. The genome displays an excellent accuracy throughout a size range of 1 M to 3 G. A candidate structure variation set is obtained in the invention through analyzing the whole genome sequencing result. The candidate structure variation set can be used for further analysis. Various types of other methods are utilized in the invention to conduct the verification of the candidate structure variation set, thereby obtaining a structure variation set which has a false positive rate lower than 10%.