Patent ID: 8655599

Claim:
A method of determining relevance of a germline copy number variant in a human subject to a disease or a condition associated with a genotype comprising: (a) screening a genome of a human subject with the disease or condition by array Comparative Genomic Hybridization, sequencing, or SNP genotyping to provide information on one or more germline copy number variants; (b) comparing via a computer, information of said one or more germline copy number variants from the genome of said subject to a compilation of data comprising frequencies of germline copy number variants in at least 100 normal human subjects; and (c) determining a statistical significance of said one or more germline copy number variants from said comparison of step (b) to the condition or disease or determining whether a germline copy number variant is present in said human subject but not present in said compilation of data from said comparison of step (b), wherein said computer comprises computer executable logic that provides instructions for executing said comparison.