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Methods Cell Biol. 2018;144:441-457. doi: 10.1016/bs.mcb.2018.03.037. Epub 2018 Apr 24.

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

Author information

1
Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton, United Kingdom; Clinical Genomics Group, Illumina Inc., Fulbourn, United Kingdom.
2
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA, United States.
3
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA, United States; Beijing Advanced Innovation Center for Genomics, Beijing, China. Electronic address: xie@chemistry.harvard.edu.
4
Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton, United Kingdom; Center for Chromosome Stability, University of Copenhagen, Copenhagen, Denmark. Electronic address: eva@sund.ku.dk.

Abstract

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.

KEYWORDS:

Embryos; Genome stability; Oocytes; Single cell DNA sequencing; Single cell genomics; Whole genome amplification

PMID:
29804682
DOI:
10.1016/bs.mcb.2018.03.037
[Indexed for MEDLINE]

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