Patent ID: 8862410

Claim:
A method of determining a pathogenic genetic variant of a disease or condition in one or more subjects affected by the disease or condition comprising: (a) screening DNA from a subject with PCR, array Comparative Genomic Hybridization, sequencing, SNP genotyping, an Invader assay, or Fluorescence in Situ Hybridization, to provide information on one or more copy number variants; wherein the subject is affected by the disease or condition; (b) comparing via a computer, the information on the one or more copy number variants from the subject's genome to a compilation of data comprising frequencies of copy number variants in at least 100 subjects unaffected by the disease or condition, wherein the computer comprises computer executable logic that provides instructions for executing the comparison; (c) determining a statistical significance of the one or more copy number variants to a disease or condition associated with a genotype from the comparison of step (b), or determining whether the one or more copy number variants is present in the subject's genome but absent or present at lower frequency in the compilation of data from the comparison of step (b); (d) sequencing the one or more copy number variants or genome regions encompassing the one or more copy number variants determined according to step (c), from the DNA of one or more subjects affected by the disease or condition, to identify a first set of one or more genetic variants; (e) sequencing the one or more copy number variants or one or more genome regions encompassing the one or more copy number variants determined according to step (c), from the DNA of one or more subjects unaffected by the disease or condition, to identify a second set of one or more genetic variants; (f) determining whether a genetic variant of the first set of one or more genetic variants is a pathogenic genetic variant or a benign genetic variant by comparing the first set of one or more genetic variants to the second set of one or more genetic variants.