Patent ID: 7031846

Claim:
A method of presenting a diagnostic call to a user associated with genotype call data from two samples from the same individual, comprising the steps of: (a) receiving a first set of genotype call data derived from a first sample from an individual, a second set of genotype call data derived from a second sample from the individual, and a set of reference data comprising one or more reference values, wherein each of the first and second sets of genotype call data comprise one or more quantitative genotype representations derived from one or more detected intensity values from at least one probe of a corresponding probe set disposed on a probe array; (b) calculating a difference value using a quantitative genotype representation from the first set of genotype call data corresponding to a first probe set and a quantitative genotype representation from the second set of genotype call data corresponding to the first probe set; (c) normalizing the difference value using a first reference value to produce a normalized difference value, wherein the first reference value comprises a measure of variation specific to the first probe set; (d) comparing the normalized difference value with one or more disease data profiles to produce a diagnostic call; and (e) presenting the diagnostic call to a user.