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US 6,468,744 B1Granted
Analysis of genetic polymorphisms and gene copy number
AssigneeAffymetrix, Inc.
InventorsMaureen T. Cronin, Edward L. Sheldon, Charles G. Miyada, Earl A. Hubbell, Mark Chee, Stephen P. A. Fodor, Xiaohua C. Huang, Robert J. Lipshutz, Peter E. Lobban, MacDonald S. Morris
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Abstract
The invention provides methods for detecting variations in polymorphic sites and/or variations in gene copy number. The methods are particularly useful for analysis of biotransformation genes, such as cytochromes P450.
Claims16
A method of determining copy number of a gene present in an individual, comprising:
- analyzing a plurality of polymorphic sites in a chromosome containing a gene from an individual to determine the number of different polymorphic forms present at each site;
- and
- assigning the copy number of the gene as the highest number of polymorphic forms present at a single site.
Dependencies are inferred from the claim text.