Single cell genomics to study DNA and chromosome changes in human gametes and embryos

Genomic and chromosomal changes occur with a high rate in the germline and preimplantation embryos. To study such changes directly in the germline of mammals requires access to material as well as single cell genomics. Recent improvements in embryology and single-cell DNA amplification make it possible to study the genomic changes directly in human oocytes, sperm, and preimplantation embryos. This is particularly important for the study of chromosome segregation directly in human oocytes and preimplantation embryos. Here, we present a practical approach how to obtain high quality DNA sequences and genotypes from single cells, using manual handling of the material that makes it possible to detect genomic changes in meiosis and mitosis spanning the entire range from single nucleotide changes to whole chromosome aneuploidies.