IP Library Granted Patent US 8,510,057
Granted Patent B1
US 8,510,057 · App. 12/151,977 · Granted Aug 13, 2013

Summarizing an aggregate contribution to a characteristic for an individual

Inventors: Linda Avey (Los Gatos, CA); Andro Rene Hsu (Berkeley, CA); Oleksiy Khomenko (Stanford, CA); John Michael Macpherson (Palo Alto, CA); Joanna Louise Mountain (Menlo Park, CA); Brian Thomas Naughton (Mountain View, CA); Serge Saxonov (Seattle, WA); Anne Wojcicki (Palo Alto, CA); Alexander Wong (Palo Alto, CA)
Assignee: 23andMe, Inc.
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Quick Facts
Patent No.
US 8,510,057
App. No.
12/151,977
Granted
Aug 13, 2013
Kind
B1
Abstract

Summarizing an aggregate contribution to a characteristic for an individual is disclosed, including determining the characteristic to be evaluated, identifying one or more markers associated with the characteristic, retrieving the measurement of the individual for each of the one or more markers from a database of individuals' markers, retrieving a statistical factor that measures the association between the marker associated with the characteristic and the characteristic for each of the one or more markers from the marker database, and determining the aggregate contribution based at least in part on the retrieved statistical factors.

Claims (38)

1. A method for summarizing an aggregate contribution to a characteristic for an individual, comprising:

receiving at a processor, an indication of the characteristic to be evaluated and an indication of an individual to determine the aggregate contribution for, wherein the characteristic is phenotypic;

identifying, using a processor, a plurality of markers associated with the characteristic;

retrieving the measurement of the individual for each of the plurality of markers from a database of individuals' markers;

retrieving a plurality of statistical factors that measure an association between the plurality of markers and the characteristics, including a joint or conditional association between a set of one or more of the plurality of markers and the characteristic; and

determining the aggregate contribution to the characteristic of the individual based at least in part on the retrieved statistical factors; wherein the aggregate contribution is a probability or an odds ratio;

outputting display characteristics to be displayed of the aggregate contribution to the characteristic of the individual.

2. A method as recited in claim 1 , wherein at least one marker is a genetic marker.

3. A method as recited in claim 1 , wherein at least one marker is a single nucleotide polymorphism (SNP).

4. A method as recited in claim 1 , wherein the statistical factor is an odds ratio.

5. A method as recited in claim 1 , wherein the statistical factor is a normalized odds ratio.

6. A method as recited in claim 1 , wherein determining includes taking a product of odds ratios associated with each marker.

7. A method as recited in claim 1 , further including providing average odds.

8. A method as recited in claim 1 , wherein the statistical factor is based on ancestral group or ethnicity.

9. A method as recited in claim 1 , wherein the statistical factor is based on age group.

10. A method as recited in claim 1 , wherein determining includes applying each statistical factor to a baseline incidence or prevalence.

11. A method as recited in claim 1 , wherein determining includes combining the retrieved statistical factors for the markers.

12. A method as recited in claim 1 , wherein determining includes applying each statistical factor to a baseline incidence or prevalence to obtain a set of normalized statistical factors and combining the normalized statistical factors to obtain the aggregate contribution.

13. A method as recited in claim 1 , wherein at least one marker is a biomarker.

14. A method as recited in claim 1 , wherein at least two statistical factors are associated with different research studies.

15. A method as recited in claim 1 , wherein the marker database includes user generated data.

16. A method as recited in claim 1 , further including displaying the aggregate contribution of a plurality of individuals.

17. A system for summarizing an aggregate contribution to a characteristic for an individual, comprising:

a processor configured to:

receive an indication of the characteristic to be evaluated and an indication of an individual to determine the aggregate contribution for, wherein the characteristic is phenotypic;

identify a plurality of markers associated with the characteristic;

retrieve the measurement of the individual for each of the plurality of markers from a database of individuals' markers;

retrieve a plurality of statistical factors that measure an association between the plurality of markers and the characteristics, including a joint or conditional association between a set of one or more of the plurality of markers and the characteristic; and

determine the aggregate contribution to the characteristic of the individual based at least in part on the retrieved statistical factors; wherein the aggregate contribution is a probability or an odds ratio;

output display characteristics to be displayed of the aggregate contribution to the characteristic of the individual; and

a memory coupled to the processor and configured to provide the processor with instructions.

18. A computer program product for summarizing an aggregate contribution to a characteristic for an individual, the computer program product being embodied in a non-transitory computer readable medium and comprising computer instructions for:

receiving an indication of the characteristic to be evaluated and an indication of an individual to determine the aggregate contribution for, wherein the characteristic is phenotypic;

identifying one or more markers associated with the characteristic; identifying using a processor a plurality of markers associated with the characteristic;

retrieving the measurement of the individual for each of the plurality of markers from a database of individuals' markers;

retrieving a plurality of statistical factors that measure an association between the plurality of markers and the characteristics, including a joint or conditional association between a set of one or more of the plurality of markers and the characteristic; and

determining the aggregate contribution to the characteristic of the individual based at least in part on the retrieved statistical factors, wherein the aggregate contribution is a probability or an odds ratio;

outputting display characteristics to be displayed of the aggregate contribution to the characteristic of the individual.

Assignments (4)
CORRECTIVE ASSIGNMENT TO CORRECT THE APP. NO. 63806415 TO 63806145 AND APPL NO. 17721779 TO 17731779 PREVIOUSLY RECORDED ON REEL 73168 FRAME 531. ASSIGNOR(S) HEREBY CONFIRMS THE CHANGE OF NAME. Recorded Jan 6, 2026
From: 23ANDME PGS LLC
To: 23ANDME GENOMICS LLC
Reel/Frame 074434/0334 →
CHANGE OF NAME Recorded Oct 22, 2025
From: 23ANDME PGS LLC
To: 23ANDME GENOMICS LLC
Reel/Frame 073168/0531 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Aug 26, 2025
From: 23ANDME, INC.
To: 23ANDME PGS LLC
Reel/Frame 072562/0795 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Jul 24, 2008
From: AVEY, LINDA; HSU, ANDRO RENE; KHOMENKO, OLEKSIY; MACPHERSON, JOHN MICHAEL; MOUNTAIN, JOANNA LOUISE; NAUGHTON, BRIAN THOMAS; SAXONOV, SERGE; WOJCICKI, ANNE; WONG, ALEXANDER
To: 23ANDME, INC.
Reel/Frame 021298/0844 →
Continuity (1)
Provisional Application 60999175 · Oct 15, 2007