# US 8,543,339 B2 · Gamete donor selection based on genetic calculations > Agents: this data is available as JSON from the patentgrep API and MCP server — see https://patentgrep.com/llms.txt - Number: US 8,543,339 B2 - Document ID: US8543339B2 - Status: Granted - Kind: B2 - Application number: 12/592,950 - Filed: 2009-12-04 - Published: 2010-06-10 - Granted: 2013-09-24 - Earliest claimed: 2008-12-05 - Assignees: 23andMe, Inc. - Applicants: Anne Wojcicki; Linda Avey; Joanna Louise Mountain; John Michael Macpherson; Joyce Yeh-hong Tung - Inventors: Anne Wojcicki; Linda Avey; Joanna Louise Mountain; John Michael Macpherson; Joyce Yeh-hong Tung - Web page: https://patentgrep.com/patent/US8543339B2 ## CPC - G16B 50/30: Data warehousing; Computing architectures - G16B 20/20: Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection - G16B 20/40: Population genetics; Linkage disequilibrium - G16B 50/00: ICT programming tools or database systems specially adapted for bioinformatics - G16B 20/00: ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations - G16B: BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY ## 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 ### Claim 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. ### Claim 2 (depends on 1) The system of claim 1, further comprising a database coupled to the processor, configured to store the genotypes of the plurality of donors. ### Claim 3 (depends on 1) 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. ### Claim 4 (depends on 3) 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. ### Claim 5 (depends on 3) 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. ### Claim 6 (depends on 3) 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. ### Claim 7 (depends on 3) 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. ### Claim 8 (depends on 1) 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. ### Claim 9 (depends on 1) 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. ### Claim 10 (depends on 9) The system of claim 9, wherein the processor is further configured to supply display information for displaying the additional statistical information. ### Claim 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. ### Claim 12 (depends on 11) The method of claim 11, further comprising storing the genotypes of the plurality of donors. ### Claim 13 (depends on 11) 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. ### Claim 14 (depends on 13) 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. ### Claim 15 (depends on 13) 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. ### Claim 16 (depends on 13) 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. ### Claim 17 (depends on 13) 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. ### Claim 18 (depends on 11) The method of claim 11, further comprising excluding any donor that is deemed to be a close relative of the recipient. ### Claim 19 (depends on 11) 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. ### Claim 20 (depends on 19) The method of claim 19, further comprising displaying the additional statistical information. ### Claim 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. ### Claim 22 (depends on 1) 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. ### Claim 23 (depends on 11) 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. ### Claim 24 (depends on 21) The non-transitory computer program product of claim 21, further comprising computer instructions for storing the genotypes of the plurality of donors. ### Claim 25 (depends on 21) 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. ### Claim 26 (depends on 21) 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. ### Claim 27 (depends on 21) 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. ### Claim 28 (depends on 21) 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.