METHODS AND SYSTEMS FOR MEDICAL SEQUENCING ANALYSIS
First Claim
1. A method of identifying elements associated with a trait, the method comprisingidentifying the association of a relevant element with a relevant component phenotype 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 a combination,wherein the relevant element is an element having a threshold value of importance of the element to homeostatis relevant to the trait, intensity of the perturbation of the element, duration of the effect of the element, or a combination.
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Accused Products
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. Thus, the specific combinations of genetic and environmental elements that cause disease vary widely among the affected individuals in a cohort. The disclosed model is an effective, general experimental design and analysis approach for the identification of causal variants in common, complex diseases by medical sequencing. The disclosed model and the disclosed methods based on the model can be used to generate valuable and useful information.
47 Citations
50 Claims
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1. A method of identifying elements associated with a trait, the method comprising
identifying the association of a relevant element with a relevant component phenotype 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 a combination, wherein the relevant element is an element having a threshold value of importance of the element to homeostatis relevant to the trait, intensity of the perturbation of the element, duration of the effect of the element, or a combination.
- 41. A method of diagnosing schizophrenia, affective psychosis, susceptibility to schizophrenia, susceptibility to affective psychosis, or a combination, in a subject, wherein the method comprises determining if one or more of the GPX, GSPT1 and TKT genes in the subject contains a genetic variation.
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43. A method of treating schizophrenia, affective psychosis or both in a subject, comprising
(a) determining if one or more of the GPX, GSPT1 and TKT genes in the subject contains a genetic variation; - and
(b) administering to the subject a compound that can increase brain glutathione levels. - View Dependent Claims (44)
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45. A method of treating schizophrenia, affective psychosis or both in a subject, comprising administering to the subject a polynucleotide fragment or fragments comprising one or more of the GPX, GSPT1 and TKT genes or a fragment, derivative or homologue thereof.
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46. A method of treating schizophrenia, affective psychosis or both in a subject, comprising administering to the subject a polypeptide fragment or fragments comprising one or more of the gene products of the GPX, GSPT1 and TKT genes or a fragment, derivative or homologue thereof.
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47. A method for the treatment of schizophrenia, affective psychosis or both in a subject, comprising administering an antibody or antibodies specific for the gene product of one or more of the GPX, GSPT1 and TKT genes.
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48. An animal model for psychiatric disorder wherein the animal model has been generated by introducing a mutation into the one or more of the GPX, GSPT1 and TKT genes.
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49. A method for identifying ligands for the gene product of one or more of the GPX, GSPT1 and TKT genes, the method comprising the steps of:
- a) introducing into a suitable host cell a polynucleotide fragment comprising one or more of the GPX, GSPT1 and TKT genes or a fragment, derivative or homologue thereof;
b) culturing cells under conditions to allow expression of the polynucleotide fragment;
c) optionally isolating the expression product;
d) brining the expression product into contact with potential ligands which will possibly bind to the protein encoded by said polynucleotide fragment from step a);
e) establishing whether a ligand has bound to the expressed protein. - View Dependent Claims (50)
- a) introducing into a suitable host cell a polynucleotide fragment comprising one or more of the GPX, GSPT1 and TKT genes or a fragment, derivative or homologue thereof;
Specification