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.

Abstract: A method for determining the genetic relationship of a conceptus with sperm and oocyte providers is provided, comprising receiving conceptus, sperm provider, and oocyte provider sequence data; aligning the received sequence data to a reference genome; identifying single nucleotide polymorphisms (SNPs) in the sperm provider, oocyte provider, and conceptus sequence data; imputing missing gaps in the sperm provider sequence data and the oocyte provider sequence data using an imputation reference; calculating a paternal consistency score between the sperm provider and the conceptus; calculating a maternal consistency score between the oocyte provider and conceptus; and classifying the sperm provider and/or the oocyte provider as related to the conceptus if the paternal consistency score and/or the maternal consistency score exceeds the predetermined threshold.

Abstract: A method for detecting ploidy in an embryo is provided, comprising receiving an embryo 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 (SMPs) in the sequence data by comparing the received sequence data to the aligned reference genome; determining a ploidy score comprising counting the number of observed SNPs in the region of interest; comparing the ploidy score to a predetermined threshold; and identifying the embryo as polyploid if the ploidy score is below the predetermined threshold.

Abstract: A method for verifying a genomic variant region in an embryo, is disclosed. Embryo sequencing data is received by one or more processors. The received embryo sequencing data is aligned to a reference genome, by the one or more processors. A genomic variant region is identified in the aligned embryo sequencing data, by the one or more processors. A number of single nucleotide variants (SNVs) is counted in the identified genomic variant region, by the one or more processors. The counted number of SNVs in the identified genomic variant region is normalized against a baseline count of SNVs for a reference region corresponding to the identified genomic variant region to generate a normalized SNV density for the genomic variant region, by the one or more processors. The identified genomic variant region is verified, by the one or more processors, if the normalized SNV density in the identified genomic variant region satisfies a tolerance criterion.