Evaluating genetic disorders

Abstract

The present invention relates to genetic analysis and evaluation utilizing copy-number variants or polymorphisms. The methods utilize array comparative genomic hybridization and PCR assays to identify the significance of copy number variations in a subject or subject group.

What is claimed is: 
     
         1 . A method of evaluating copy number variants of a subject comprising:
 a. obtaining information comprising genomic copy number from said subject,   b. accessing a set of data representing a frequency of occurrence for one or more copy number variants from at least 100 individuals,   c. comparing said information from said subject against said set of data, and   d. evaluating copy number variants of said subject based on the comparison of step (c).   
     
     
         2 . The method of  claim 1  wherein said accessing of step (b) and comparing of step (c) are computer-implemented. 
     
     
         3 . The method of  claim 1  wherein said information from said subject is obtained by an aCGH analysis. 
     
     
         4 . The method of  claim 1  wherein said information from said subject is obtained using PCR analysis. 
     
     
         5 . The method of  claim 1  further comprising identifying a probability of said subject possessing a condition associated with a copy number variant. 
     
     
         6 . The method of  claim 1  wherein said set of data comprises the frequency information for normal copy number variants. 
     
     
         7 . The method of  claim 1  wherein said set of data comprises a copy number breakpoint map. 
     
     
         8 . The method of  claim 1 , wherein said set of data is genome-wide. 
     
     
         9 . A computer readable medium, comprising a set of instructions to cause a computer to perform the steps of comparing input data comprising copy number information from a subject's genome against a set of data comprising frequency data for copy number variants from the genome of at least 100 individuals and generating an output comprising an evaluation of the copy number variant of said subject. 
     
     
         10 . The computer readable medium of  claim 9  wherein said set of data comprises data from at least 1,000 individuals. 
     
     
         11 . The computer readable medium of  claim 9  wherein said data comprises data from at least 5,000 individuals. 
     
     
         12 . The computer readable medium of  claim 9  wherein said data comprises data from at least 10,000 individuals. 
     
     
         13 . The computer readable medium of  claim 9  wherein said set of data comprises the frequency information for normal copy number variants. 
     
     
         14 . The computer readable medium of  claim 9  wherein said set of data comprises a copy number breakpoint map. 
     
     
         15 . The computer readable medium of  claim 9 , wherein said set of data is genome-wide. 
     
     
         16 . A method of identifying whether a therapeutic is useful for treating a condition comprising: obtaining information from the genome of a cohort of subjects involved in a clinical trial of a therapeutic for said condition, identifying the existence of one or more copy number variants, comparing said one or more variants from said cohort to data representing the frequencies of copy number variants in at least 100 individuals to determine the relevance of said one or more variants, correlating a success rate of said therapeutic to the existence and relevance of said copy number variants in said cohort, thereby identifying said therapeutic as useful. 
     
     
         17 . The method of  claim 16  further comprising identifying one or more subpopulations from said cohort in whom the success rate permits the rescue of a therapeutic from said clinical trial. 
     
     
         18 . The method of  claim 16  wherein said data is from at least 1,000 individuals. 
     
     
         19 . The method of  claim 16  wherein said data is from at least 5,000 individuals. 
     
     
         20 . The method of  claim 16  wherein said data is from at least 10,000 individuals. 
     
     
         21 . The method of  claim 16  wherein said data comprises the frequency data for normal copy number. 
     
     
         22 . The method of  claim 16  wherein said data comprises a copy number breakpoint map. 
     
     
         23 . The method of  claim 21  wherein said data is genome-wide. 
     
     
         24 . The method of  claim 16  further comprising screening the genome of said cohort to obtain said information. 
     
     
         25 . The method of  claim 16  wherein said information comprises data from aCGH. 
     
     
         26 . The method of  claim 16  wherein said information comprises date from PCR. 
     
     
         27 . A method of reviewing the efficacy of a therapeutic approved for treating a condition comprising: obtaining information from the genome of a cohort of subjects using said therapeutic for said condition, which information identifies the existence of one or more copy number variants, comparing said one or more variants from said cohort to data representing the frequencies of copy number variants in at least 100 individuals to determine the relevance of said one or more variants, and correlating a beneficial and/or adverse effects of said therapeutic to the existence and relevance of said copy number variants in said cohort. 
     
     
         28 . The method of  claim 27  further comprising screening the genome of said cohort to obtain said information. 
     
     
         29 . The method of  claim 27  further comprising identifying one or more subpopulations from said cohort, which subpopulations are associated with an extent of success or deleterious affects. 
     
     
         30 . The method of  claim 27  wherein said data is from at least 1,000 individuals. 
     
     
         31 . The method of  claim 27  wherein said data is from at least 5,000 individuals. 
     
     
         32 . The method of  claim 27  wherein said data is from at least 10,000 individuals. 
     
     
         33 . The method of  claim 27  wherein said information comprises data from aCGH screening. 
     
     
         34 . The method of  claim 27  wherein said information comprises data from PCR screening. 
     
     
         35 . A method of reviewing the efficacy of a therapeutic approved for treating a condition comprising: obtaining information from the genome of a cohort of subjects using said therapeutic for said condition, which information identifies the existence of one or more copy number variants, comparing said one or more variants from said cohort to data representing the frequencies of copy number variants in at least 100 individuals to determine the relevance of said one or more variants, and correlating a beneficial and/or adverse effects of said therapeutic to the existence and relevance of said copy number variants in said cohort. 
     
     
         36 . The method of  claim 35  further comprising screening the genome of said cohort to obtain said information. 
     
     
         37 . The method of  claim 35  further comprising identifying one or more subpopulations from said cohort, which subpopulations are associated with an extent of success or deleterious affects. 
     
     
         38 . The method of  claim 35  wherein said data is from at least 1,000 individuals. 
     
     
         39 . The method of  claim 35  wherein said data is from at least 5,000 individuals. 
     
     
         40 . The method of  claim 35  wherein said data is from at least 10,000 individuals. 
     
     
         41 . The method of  claim 35  wherein said information comprises data from aCGH screening. 
     
     
         42 . The method of  claim 35  wherein said information comprises data from PCR screening.