Joann S Mudge

US Patent:

8140270, Mar 20, 2012

Filed:

Mar 24, 2008

Appl. No.:

12/054072

Inventors:

Stephen F. Kingsmore - Santa Fe NM, US
Damian D. G. Gessler - Santa Fe NM, US
Gregory D. May - Santa Fe NM, US
Joann Mudge - Santa Fe NM, US

Assignee:

National Center for Genome Resources - Santa Fe NM

International Classification:

G06F 19/10
G06F 19/14

US Classification:

702 19, 702 20

Abstract:

Disclosed are methods of identifying elements associated with a trait, such as a disease. The methods can comprise, for example, identifying the association of a relevant element (such as a genetic variant) with a relevant component phenotype (such as a disease symptom) of the trait, wherein the association of the relevant element with the relevant component phenotype identifies the relevant element as an element associated with the trait, wherein the relevant component phenotype is a component phenotype having a threshold value of severity, age of onset, specificity to the trait or disease, or a combination, wherein the relevant element is an element having a threshold value of importance of the element to homeostasis relevant to the trait, intensity of the perturbation of the element, duration of the effect of the element, or a combination. The disclosed methods are based on a model of how elements affect complex diseases. The disclosed model is based on the existence of significant genetic and environmental heterogeneity in complex diseases.