IP Library Granted Patent US 8,543,339
Granted Patent B2
US 8,543,339 · App. 12/592,950 · Granted Sep 24, 2013

Gamete donor selection based on genetic calculations

Inventors: Anne Wojcicki (Palo Alto, CA); Linda Avey (Lafayette, CA); Joanna Louise Mountain (Menlo Park, CA); John Michael Macpherson (Palo Alto, CA); Joyce Yeh-hong Tung (Menlo Park, CA)
Assignee: 23andMe, Inc.
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Quick Facts
Patent No.
US 8,543,339
App. No.
12/592,950
Granted
Sep 24, 2013
Kind
B2
Abstract

Gamete donor selection includes receiving a specification including a phenotype of interest, receiving a genotype of a recipient and a plurality of genotypes of a respective plurality of donors, determining statistical information pertaining to the phenotype of interest based at least in part on different pairings of the genotype of the recipient and a genotype of a donor in the plurality of donors, and identifying a preferred donor among the plurality of donors, based at least in part on the statistical information determined.

Claims (58)

1. A system for gamete donor selection comprising:

one or more processors configured to:

receive a specification including a phenotype of interest that can be present in a hypothetical offspring;

receive a genotype of a recipient and a plurality of genotypes of a respective plurality of donors;

determine statistical information including probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donors; and

identify a preferred donor among the plurality of donors, based at least in part on an evaluation of the statistical information determined, including:

to compare the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and the genotypes of the plurality of donors to identify the preferred donor; and

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

2. The system of claim 1 , further comprising a database coupled to the processor, configured to store the genotypes of the plurality of donors.

3. The system of claim 1 , wherein to determine the statistical information includes to compute the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donor based at least in part on a penetrance function that is a distribution of possible phenotypes conditional on an input genotype.

4. The system of claim 3 , wherein to determine the statistical information includes to modify the penetrance function to include possibility of errors in the genotype of the recipient, possibility of errors in the genotype of the donor, or both.

5. The system of claim 3 , wherein to determine the statistical information includes to modify the penetrance function to include familial data of the recipient, familial data of the donor, or both.

6. The system of claim 3 , wherein to determine the statistical information includes to modify the penetrance function to include environmental data of the recipient, environmental data of the donor, or both.

7. The system of claim 3 , wherein:

the specification includes a plurality of non-independent phenotypes that depend on at least one shared genetic marker, depend on genetic markers that are located near one another in the genome, and/or depend non-genetic factors; and

to determine the statistical information includes to modify the penetrance function to represent the plurality of non-independent phenotypes as a joint phenotype.

8. The system of claim 1 , wherein the processor is further configured to identify any donor that is deemed to be a close relative of the recipient.

9. The system of claim 1 , wherein the processor is further configured to:

receive an additional specification that includes an additional phenotype of interest;

determine additional statistical information including probabilities of observing the additional phenotype of interest resulting from different combinations of an additional genotype of the recipient and an additional genotype of the preferred donor, including to:

compute the probabilities of observing the additional phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donor based at least in part on a penetrance function that is a distribution of possible phenotypes conditional on an input genotype.

10. The system of claim 9 , wherein the processor is further configured to supply display information for displaying the additional statistical information.

11. A method for gamete donor selection, comprising:

receiving a specification including a phenotype of interest that can be present in a hypothetical offspring;

receiving a genotype of a recipient and a plurality of genotypes of a respective plurality of donors;

using one or more computer processors coupled to one or more memories configured to provide the one or more computer processors with instructions to determine statistical information including probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donors; and

identifying a preferred donor among the plurality of donors, based at least in part on the statistical information determined, including:

comparing the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and the genotypes of the plurality of donors to identify the preferred donor.

12. The method of claim 11 , further comprising storing the genotypes of the plurality of donors.

13. The method of claim 11 , wherein determining the statistical information of the phenotype includes computing the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donor based at least in part on a penetrance function that is a distribution of possible phenotypes conditional on an input genotype.

14. The method of claim 13 , wherein determining the statistical information includes modifying the penetrance function to include possibility of errors in the genotype of the recipient, possibility of errors in the genotype of the donor, or both.

15. The method of claim 13 , wherein determining the statistical information includes modifying the penetrance function to include familial data of the recipient, familial data of the donor, or both.

16. The method of claim 13 , wherein determining the statistical information includes modifying the penetrance function to include environmental data of the recipient, environmental data of the donor, or both.

17. The method of claim 13 , wherein:

the specification includes a plurality of non-independent phenotypes that depend on at least one shared genetic marker, depend on genetic markers that are located near one another in the genome, and/or depend non-genetic factors; and

determining the statistical information includes modifying the penetrance function to represent the plurality of non-independent phenotypes as a joint phenotype.

18. The method of claim 11 , further comprising excluding any donor that is deemed to be a close relative of the recipient.

19. The method of claim 11 , wherein further comprising:

receiving an additional specification that includes an additional phenotype of interest; and

determining additional statistical information including probabilities of observing the additional phenotype of interest resulting from different combinations of an additional genotype of the recipient and an additional genotype of the preferred donor, including:

computing the probabilities of observing the additional phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donor based at least in part on a penetrance function that is a distribution of possible phenotypes conditional on an input genotype.

20. The method of claim 19 , further comprising displaying the additional statistical information.

21. A non-transitory computer program product for gamete donor selection, the computer program product being embodied in a computer readable storage medium and comprising computer instructions for:

receiving a specification including a phenotype of interest that can be present in a hypothetical offspring;

receiving a genotype of a recipient and a plurality of genotypes of a respective plurality of donors;

determining statistical information including probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donors; and

identifying a preferred donor among the plurality of donors, based at least in part on an evaluation of the statistical information determined, including:

comparing the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and the genotypes of the plurality of donors to identify the preferred donor.

22. The system of claim 1 , wherein to identify a preferred donor comprises to rank the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and the genotypes of the plurality of donors.

23. The method of claim 11 , wherein identifying a preferred donor comprises ranking the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and the genotypes of the plurality of donors.

24. The non-transitory computer program product of claim 21 , further comprising computer instructions for storing the genotypes of the plurality of donors.

25. The non-transitory computer program product of claim 21 , wherein determining the statistical information of the phenotype includes computing the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donor based at least in part on a penetrance function that is a distribution of possible phenotypes conditional on an input genotype.

26. The non-transitory computer program product of claim 21 , further comprising computer instructions excluding any donor that is deemed to be a close relative of the recipient.

27. The non-transitory computer program product of claim 21 , further comprising computer instructions for:

receiving an additional specification that includes an additional phenotype of interest; and

determining additional statistical information including probabilities of observing the additional phenotype of interest resulting from different combinations of an additional genotype of the recipient and an additional genotype of the preferred donor, including:

computing the probabilities of observing the additional phenotype of interest resulting from different combinations of the genotype of the recipient and genotypes of the plurality of donor based at least in part on a penetrance function that is a distribution of possible phenotypes conditional on an input genotype.

28. The non-transitory computer program product of claim 21 , wherein identifying a preferred donor comprises ranking the probabilities of observing the phenotype of interest resulting from different combinations of the genotype of the recipient and the genotypes of the plurality of donors.

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 Feb 12, 2010
From: WOJCICKI, ANNE; AVEY, LINDA; MOUNTAIN, JOANNA LOUISE; MACPHERSON, JOHN MICHAEL; TUNG, JOYCE YEH-HONG
To: 23ANDME, INC.
Reel/Frame 023945/0447 →
Continuity (2)
Provisional Application 61201101 · Dec 5, 2008
Related Publication 20100145981A1 · Jun 10, 2010