POLYGENIC RISK SCORE FOR IN VITRO FERTILIZATION

Provided are methods for determining a disease risk associated with an embryo that comprise constructing the genome of the embryo based on (i) one or more genetic variants in the embryo, (ii) a paternal haplotype, (iii) a maternal haplotype (iv) a transmission probability of the paternal haplotype,...

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Bibliographische Detailangaben
Hauptverfasser: KUMAR, Akash, GALHARDO, Luisa, BECHOR, Elan, IM, Kate M, RABINOWITZ, Matthew, RAO, Abhiram, NG, Pauline
Format: Patent
Sprache:eng ; fre ; ger
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Zusammenfassung:Provided are methods for determining a disease risk associated with an embryo that comprise constructing the genome of the embryo based on (i) one or more genetic variants in the embryo, (ii) a paternal haplotype, (iii) a maternal haplotype (iv) a transmission probability of the paternal haplotype, and (v) a transmission probability of the maternal haplotype; assigning a polygenic risk score to the embryo based on the constructed genome of the embryo; determining the disease risk associated with the embryo based on the polygenic risk score; and determining transmission of disease causing genetic variants and/or haplotypes from the paternal genome and/or maternal genome to the embryo. Also provided are methods of determining a range of disease risk for potential children for a mother and a potential sperm donor. Also provided are methods of determining disease risk in an individual.