Evaluating Genetic Disorders
AssigneePopulation Diagnostics, Inc.
InventorsJames Chinitz, Eli Hatchwell
Life of this patent
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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.
Claims42
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).
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.
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.
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.
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 identities 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.
Dependencies are inferred from the claim text.