PRE-IMPLANTATION GENETIC SCREENING AND ANEUPLOIDY DETECTION

摘要

Provided herein are methods for determining ploidy of an embryo. The methods can include the steps of amplifying, using a primer pair that amplifies a plurality of human genomic loci, nucleic acid from a preimplantation embryo to generate a plurality of amplicons, sequencing the amplicons to generate a plurality of sequence reads, matching the sequence reads to the genomic loci and counting a number of matches, and determining chromosome count based on the number of matches. Also provided herein are systems for determining chromosome count comprising a processor coupled to a tangible memory subsystem storing instructions. When executed by the processor, the instructions cause the system to implement the methods provided.

主权项

1. A method for determining ploidy of an embryo, the method comprising:
amplifying, using a primer pair that amplifies a plurality of human genomic loci, nucleic acid from a preimplantation embryo to generate a plurality of amplicons; sequencing the amplicons to generate a plurality of sequence reads; matching the sequence reads to the genomic loci and counting a number of matches; and determining chromosome count based on the number of matches.