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filingDate 2020-06-19-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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publicationDate 2021-01-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2021020265-A1
titleOfInvention Systems and methods for determining pattern of inheritance in embryos
abstract A method for determining pattern of inheritance in an embryo for a region of interest is provided, comprising receiving embryo, maternal and paternal sequence data; aligning the received sequence data to a reference genome; identifying a region of interest in the aligned embryo sequence data; identifying single nucleotide polymorphisms (SNPs) in the maternal sequence data, paternal sequence data, and the identified region of interest in the embryo sequence data; imputing missing gaps in the maternal sequence data and the paternal sequence data using an imputation reference; counting the number of SNPs that are common between the embryo and the mother/father in the identified region of interest for the embryo sequence data and a corresponding region on the maternal/paternal sequence data to determine a maternal/paternal contribution value; and classifying a pattern of inheritance for the embryo as maternal or paternal based on the relative contribution values between mother and father.
priorityDate 2019-06-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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