| 摘要 |
Methods of genetic analysis and evaluation utilizing copy-number variants or polymorphisms. The method comprises obtaining a set of data representing a frequency of occurrence for one or more normal copy number variants by a first platform for screening a genome, obtaining information comprising genomic copy number by a second platform for screening a genome identifying the existence of one or more copy number variants, comparing the information against the set of data and determining a statistical significance of said one or more copy number variants to a phenotype associated with a genotype or determining whether a copy number variant is present in a subject but not in said set of data. Also claimed is use of the method to identify whether a therapeutic is useful in treating a condition. |
