IP Library Granted Patent US 10,755,805
Granted Patent B1
US 10,755,805 · App. 16/446,465 · Granted Aug 25, 2020

Ancestry painting with local ancestry inference

Inventors: Chuong Do (Mountain View, CA); Eric Durand (Sceaux, FR); John Michael Macpherson (Mountain View, CA)
Assignee: 23andMe, Inc.
G16H10/60G06F16/29G06N5/022G06N5/04
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Quick Facts
Patent No.
US 10,755,805
App. No.
16/446,465
Granted
Aug 25, 2020
Kind
B1
Abstract

Presenting ancestral origin information, comprising: receiving a request to display ancestry data of an individual; obtaining ancestry composition information of the individual, the ancestry composition information including information pertaining to a proportion of the individual's genotype data that is deemed to correspond to a specific ancestry; and presenting the ancestry composition information to be displayed.

Claims (43)

1. A computer-implemented method for graphically displaying ancestry composition information using a user interface, the method comprising:

receiving, from a user via the user interface, a request to display ancestry composition information for an individual;

obtaining ancestry composition information comprising proportions of the individual's genotype data deemed to correspond to specific ancestries; and

displaying, via the user interface, ancestry composition information of the individual in a circular representation, wherein the circle comprises a plurality of sections, each section sized to represent a portion of the individual's genotype corresponding to a specific ancestry.

2. The method of claim 1 , wherein the plurality of sections are presented in different visual formats to represent different specific ancestries.

3. The method of claim 2 , wherein the visual formats comprise different colors and/or patterns.

4. The method of claim 2 , further comprising displaying a list of the specific ancestries and their proportions of the individual's genotype corresponding to the specific ancestries.

5. The method of claim 2 , further comprising displaying a map of the specific ancestries of the individual's genotype.

6. The method of claim 1 , wherein the specific ancestries of the individual's genotype data represent geographical regions.

7. The method of claim 6 , wherein the geographic regions comprise continents.

8. The method of claim 1 , wherein the ancestry composition information includes hierarchical information of different geographical regions.

9. The method of claim 1 , further comprising:

receiving, from the user via the user interface, a request to display ancestry composition information for subregions of a first specific ancestry, and

displaying, via the user interface, the ancestry composition information of the individual by subregions of the first specific ancestry.

10. The method of claim 9 , wherein the request to display ancestry composition information for subregions of a first specific ancestry comprises input caused by the user moving a cursor over the subregions displayed via the user interface.

11. The method of claim 9 , wherein the request to display ancestry composition information for subregions of a first specific ancestry comprises input caused by the user clicking on the subregions displayed via the user interface.

12. The method of claim 9 , wherein the ancestry composition information of subregions is presented in a plurality of subportions, each sized to represent a proportion of the individual's genotype corresponding a specific subregion.

13. The method of claim 9 , wherein displaying the ancestry composition information of the individual by subregions of the first specific ancestry comprises expanding a first section of the circular representation for the first specific ancestry.

14. The method of claim 13 , wherein expanding the first section of the circular representation shows the subregions of the first specific ancestry.

15. The method of claim 13 , further comprising:

receiving, from the user via the user interface, a request to expand a first subregion of the first specific ancestry,

displaying, via the user interface, the ancestry composition information for a more specific geographic location within the first subregion.

16. The method of claim 9 , wherein displaying the ancestry composition information of the individual by subregions of the first specific ancestry comprises displaying additional sections indicating geographic regions within a continent corresponding to the first specific ancestry.

17. The method of claim 1 , further comprising:

receiving, from the user via the user interface, a request to display ancestry composition inherited from one or both parents; and

displaying, via the user interface, the ancestry composition information of the individual inherited from the one or both parents.

18. The method of claim 1 , wherein the ancestry composition information includes inheritance information comprising proportions of the individual's ancestries inherited from each parent of the individual.

19. The method of claim 1 , further comprising:

receiving, from the user via the user interface, a request to display the ancestry composition information for a specific chromosome; and

displaying, via the user interface, the ancestry composition information of the individual for the specific chromosome.

20. The method of claim 1 , wherein the genotype data for the ancestry composition information is from autosomal chromosomes.

21. The method of claim 1 , wherein displaying, via the user interface, the ancestry composition information of the individual comprises displaying specific continents to which the individual's genotype data corresponds.

22. The method of claim 1 , wherein obtaining ancestry composition information of the individual comprises receiving the ancestry composition information from a database or a pipelined ancestry prediction process.

23. The method of claim 22 , wherein the pipelined ancestry prediction process comprises:

obtaining unphased genotype data of the individual;

phasing the unphased genotype data to generate phased haplotype data; and

using a machine learning trained model to classify portions of the phased haplotype data as corresponding to specific ancestries and generate the ancestry composition information.

24. The method of claim 22 , wherein the pipelined ancestry prediction process comprises

recalibrating posterior probabilities that a proportion of the individual's genotype data corresponds to a specific ancestry and generating the ancestry composition information.

25. The method of claim 22 , wherein the pipelined ancestry prediction process comprises clustering posterior probabilities that proportions of the individual's genotype data correspond to specific ancestries until the clustered posterior probability meets or exceeds a threshold value.

26. The method of claim 25 , wherein the clustering is performed by adding the posterior probability of specific ancestries associated with a geographical hierarchy.

27. The method of claim 1 , wherein the ancestry composition information is obtained per haplotype segment.

28. The method of claim 27 , further comprising tallying the ancestry composition information from a plurality of haplotype segments.

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 Jun 12, 2025
From: DO, CHUONG; DURAND, ERIC; MACPHERSON, JOHN MICHAEL
To: 23ANDME, INC.
Reel/Frame 071400/0310 →
Continuity (3)
Continuation 15181088 · Jun 13, 2016
Continuation 13800683 · Mar 13, 2013
Provisional Application 61724228 · Nov 8, 2012
Cited By (7)
US 12,243,654 US 12,260,936 US 12,293,268 US 12,327,615 US 12,354,710 US 12,431,221 US 12,580,048