Patent ID: 6785614
Filing Date: 2004-08-31
Classification: C12Q

Abstract:
A method for comparing a test genome to a reference genome, said method comprising:(i) providing a plurality of clones of known size that substantially cover at least a portion of said test genome; (ii) obtaining sequence information from the termini of each of said plurality of clones, thereby obtaining a pair of terminal sequences; (iii) identifying a pair of sequences within said reference genome that corresponds to each of said pairs of terminal sequences; and (iv) determining the relationship between the members of each pair of corresponding sequences within said reference genome; wherein a difference in the observed relationship between the members of any of said pairs of corresponding sequences within said reference genome and the expected relationship based upon said known size of said plurality of clones indicates the presence of a rearrangement in said test genome compared to said reference genome and wherein said test genome is obtained from an individual with a disease associated with chromosomal rearrangements.