GENOME-WIDE DETECTION OF GENOMIC REARRANGEMENTS AND USE OF GENOMIC REARRANGEMENTS TO DIAGNOSE GENETIC DISEASE

摘要

The disclosure relates to the genome-wide identification of "rearrangement hotspots". The disclosure also relates to a microarray chip system for use in detecting genomic rearrangements and a method of manufacturing a microarray chip system useful for detecting genomic rearrangements. The disclosure also relates to methods for detecting genomic rearrangements associated with genetic diseases. The disclosure further relates to methods for using copy number variants in chromosome 2 for detecting Tourette Syndrome.