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US 7,127,355 B2Granted
Methods for genetic analysis
AssigneePerlegen Sciences, Inc.
InventorsDavid Cox, Mark McCamish
Life of this patent
Estimating the term…
Abstract
Several methods are described for assessing an individual's likelihood of developing or exhibiting a multifactorial trait. The methods include determining a plurality of genotypes for the individual at a plurality of biallelic polymorphic loci, using the genotypes to compute a score for the individual, and comparing the score to at least one threshold value.
Claims64
A method for assessing an individual's likelihood of developing or exhibiting a multifactorial trait comprising
- a) determining a genotype for said individual at a plurality of biallelic polymorphic loci, wherein each of said plurality has an associated allele and an unassociated allele, and further wherein the genotype is selected from the group consisting of homozygous for the associated allele, heterozygous, and homozygous for the unassociated allele;
- b) computing a score for said individual based on said genotype determined in a);
- and
- c) performing a comparison of the score to at least one threshold value, wherein said comparison is used to assess said individual's likelihood of developing or exhibiting said multifactorial trait and to further determine an appropriate course of treatment for said individual.
1 more element
A method for assessing an individual's likelihood of developing or exhibiting a multifactorial trait comprising
- a) determining a genotype for said individual at a plurality of biallelic polymorphic loci, wherein each of said plurality has an associated allele and an unassociated allele, and further wherein the genotype is selected from the group consisting of homozygous for the associated allele, heterozygous, and homozygous for an unassociated allele, and further wherein said associated alleles and said unassociated alleles are identified by performing an association study with a case group that exhibits the multifactorial trait and a control group that does not exhibit the multifactorial trait, thereby determining a set of alleles of said polymorphic loci that are significantly more abundant in the case group than the control group, wherein said set of alleles are the associated alleles, and further wherein said case and said control groups are matched prior to performing the association study;
- b) computing a score for said individual based on said genotypes determined in a), wherein said computing a score further comprises assigning a value of zero to each of said polymorphic loci that has a genotype that is homozygous for an allele that is not the associated allele;
- assigning a value of one to each of said polymorphic loci that has a genotype that is heterozygous;
- assigning a value of two to each of said polymorphic loci that has a genotype that is homozygous for the associated allele;
- and summing the values assigned to all of said polymorphic loci, thereby computing a score for said individual;
- and
- c) performing a comparison of the score to at least one threshold value, wherein said comparison is used to determine an appropriate course of treatment for said individual, wherein each of said at least one threshold value is determined by a method comprising calculating a score for each member of said case group and said control group;
- selecting a series of risk cutoff values;
- compiling information, wherein said information comprises at least one of a sensitivity, a specificity, a PPV, an NPV, an accuracy, a relative risk, an LR+, an LR−, clinical data regarding said multifactorial trait, clinical data regarding said individual, clinical data regarding potential treatment options, and input from at least one regulatory agency;
- choosing a one of said series of risk cutoff values as said each of said at least one threshold value based on said information, thereby determining said each of said at least one threshold value.
7 more elements
Dependencies are inferred from the claim text.