US2017277828A1PendingUtilityA1

Summarizing an aggregate contribution to a characteristic for an individual

Assignee: 23ANDME INCPriority: Oct 15, 2007Filed: Jun 13, 2017Published: Sep 28, 2017
Est. expiryOct 15, 2027(~1.1 yrs left)· nominal 20-yr term from priority
G06F 19/24G06F 19/18G16B 40/00G16B 20/40G16B 20/20G16B 20/00
54
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Claims

Abstract

Summarizing an aggregate contribution to a phenotypic characteristic for an individual includes: receiving information pertaining to the phenotypic characteristic of an individual; identifying, using one or more computer processors, a set of one or more markers associated with the phenotypic characteristic; obtaining a set of one or more marker measurements of the individual that corresponds to the set of one or more markers; obtaining a set of one or more statistical factors that measure associations between the set of one or more markers and the phenotypic characteristic; determining an aggregate contribution to the phenotypic characteristic of the individual based at least in part on the retrieved set of one or more statistical factors; and outputting a display characteristic to be displayed that is associated with the aggregate contribution to the phenotypic characteristic for the individual.

Claims

exact text as granted — not AI-modified
What is claimed is: 
     
         1 . A method for summarizing an aggregate contribution to a phenotypic characteristic for an individual, comprising:
 receiving information pertaining to the phenotypic characteristic of an individual;   identifying, using one or more computer processors, a set of one or more markers associated with the phenotypic characteristic;   obtaining a set of one or more marker measurements of the individual that corresponds to the set of one or more markers;   obtaining a set of one or more statistical factors that measure associations between the set of one or more markers and the phenotypic characteristic;   determining an aggregate contribution to the phenotypic characteristic of the individual based at least in part on the retrieved set of one or more statistical factors; and   outputting a display characteristic to be displayed that is associated with the aggregate contribution to the phenotypic characteristic for the individual.   
     
     
         1 . he method of  claim 1 , wherein at least one marker is a single nucleotide polymorphism (SNP). 
     
     
         3 . The method of  claim 1 , wherein the statistical factor includes an odds ratio or a normalized odds ratio. 
     
     
         4 . The method of  claim 1 , wherein the aggregate contribution includes a probability, an odds ratio, or a risk. 
     
     
         5 . The method of  claim 1 , wherein the one or more statistical factors includes one or more statistical factors based on ancestral group, ethnicity, or age group. 
     
     
         6 . The method of  claim 1 , wherein determining the aggregate contribution includes applying each statistical factor to a baseline risk. 
     
     
         7 . The method of  claim 1 , wherein determining the aggregate contribution includes combining the retrieved statistical factors for the markers. 
     
     
         8 . The method of  claim 1 , wherein the set of one or more markers includes a biomarker or a genetic marker. 
     
     
         9 . The method of  claim 1 , further including displaying the display characteristic. 
     
     
         10 . The method of  claim 1 , further including displaying a baseline risk and a risk specific to the individual. 
     
     
         11 . The method of  claim 1 , further including displaying effects of the set of one or more markers associated with the phenotypic characteristic. 
     
     
         12 . A system for summarizing an aggregate contribution to a phenotypic characteristic for an individual, comprising:
 one or more processors configured to:
 receive information pertaining to the phenotypic characteristic of an individual; 
 identify a set of one or more markers associated with the phenotypic characteristic; 
 obtain a set of one or more marker measurements of the individual that corresponds to the set of one or more markers; 
 determine a set of one or more statistical factors that measure associations between the set of one or more markers and the phenotypic characteristic; 
 determine an aggregate contribution to the phenotypic characteristic of the individual based at least in part on the retrieved set of one or more statistical factors; and 
 output a display characteristic to be displayed that is associated with the aggregate contribution to the phenotypic characteristic for the individual; and 
   one or more memories coupled to the one or more processors and configured to provide the one or more processors with instructions.   
     
     
         13 . The system of  claim 12 , wherein at least one marker is a single nucleotide polymorphism (SNP). 
     
     
         14 . The system of  claim 12 , wherein the statistical factor includes an odds ratio or a normalized odds ratio. 
     
     
         15 . The system of  claim 12 , wherein the aggregate contribution includes a probability, an odds ratio, or a risk. 
     
     
         16 . The system of  claim 12 , wherein the one or more statistical factors includes one or more statistical factors based on ancestral group, ethnicity, or age group. 
     
     
         17 . The system of  claim 12 , wherein to determine the aggregate contribution includes to apply each statistical factor to a baseline risk. 
     
     
         18 . The system of  claim 12 , wherein to determine the aggregate contribution includes to combine the retrieved statistical factors for the markers. 
     
     
         19 . The system of  claim 12 , wherein the set of one or more markers includes a biomarker or a genetic marker. 
     
     
         20 . The system of  claim 12 , wherein the set of one or more processors are further configured to cause to be displayed a baseline risk and a risk specific to the individual. 
     
     
         21 . The system of  claim 12 , wherein the set of one or more processors are further configured s to cause to be displayed effects of the set of one or more markers associated with the phenotypic characteristic. 
     
     
         22 . A computer program product for summarizing an aggregate contribution to a phenotypic characteristic for an individual, the computer program product being embodied in a computer readable medium and comprising computer instructions for:
 receiving information pertaining to the phenotypic characteristic of an individual;   identifying, using one or more computer processors, a set of one or more markers associated with the phenotypic characteristic;   obtaining a set of one or more marker measurements of the individual that corresponds to the set of one or more markers;   determining a set of one or more statistical factors that measure associations between the set of one or more markers and the phenotypic characteristic;   determining an aggregate contribution to the phenotypic characteristic of the individual based at least in part on the retrieved set of one or more statistical factors; and   outputting a display characteristic to be displayed that is associated with the aggregate contribution to the phenotypic characteristic for the individual.

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