Patent ID: 7702468

Claim:
A method of determining relevance of a copy number variant in a subject to a disease or a condition associated with a genotype comprising: (a) screening a subject's genome with PCR, array Comparative Genomic Hybridization, sequencing, SNP genotyping, or Fluorescence in Situ Hybridization to provide information on one or more copy number variants; (b) comparing via a computer, information of said one or more copy number variants from the genome of said subject to a compilation of data comprising frequencies of copy number variants in at least 1,000 normal subjects; and (c) determining a statistical significance of said one or more copy number variants from the comparison of step (b) to a condition or disease associated with a genotype or determining whether a copy number variant is present in said subject but not present in said compilation of data from the comparison of step (b), wherein said computer comprises computer executable logic that provides instructions for executing said comparison.