Systems and methods for determining genome ploidy

A non-transitory computer-readable medium storing computer instructions for detecting ploidy in an embryo, 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.

A system for detecting ploidy in an embryo, comprising:

• a data store for receiving an embryo sequence data;
• a computing device communicatively connected to the data store, the computing device comprising
• an ROI engine configured to align the received sequence data to a reference genome, and identify a region of interest in the aligned embryo sequence data;
• a SNP identification engine configured to identify single nucleotide polymorphisms (SMPs) in the sequence data by comparing the received sequence data to the aligned reference genome;
• and
• a scoring engine configured to determine a polyploid score comprising counting the number of observed SNPs in the region of interest, compare the polyploid score to a predetermined threshold, and identifying the embryo as polyploid if the polyploid score is below the predetermined threshold;
• and
• a display communicatively connected to the computing device and configured to display a report containing the polyploid classification of the embryo.