Preimplantation genetic screening and aneuploidy detection

摘要

Methods for determining embryo ploidy are provided herein. This method uses a pair of primers that amplify a number of human genomic loci to amplify nucleic acids from preimplantation embryos to generate a large number of amplicons, and sequence the amplicons to generate a large number of sequence reads. , Matching sequence reads to genomic loci, counting the number of matches, and determining a chromosome count based on the number of matches. Also provided herein is a system for determining a chromosome count, comprising a processor coupled to a tangible memory subsystem storing instructions. When executed by the processor, the instructions implement the methods provided to the system.