http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2014127749-A1

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filingDate 2014-02-24-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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publicationDate 2014-08-28-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2014127749-A1
titleOfInvention Application of single cell genome sequencing in preimplantation genetic diagnosis
abstract Disclosed is a method for using a first polar body and a second polar body as well as a single-cell embryo to carry out whole-genome non-exponential amplification and high-throughput genome sequencing, so as to perform preimplantation genetic diagnosis for genetic disease and testing for pathogenic genes causing repeated miscarriages. The method of the present invention comprises the following steps: (1) obtaining oocytes and embryos, and carrying out separation and genome amplification of first and second polar bodies and single-cell embryos; (2) establishing a genome sequencing library and sequencing, and carrying out bioinformatic analysis of the genome to obtain a gene spectrum and information concerning the number of copies of chromosomes and fragments thereof; (3) determining the chromosome ploidy of the polar bodies and embryos as well as information concerning defects, replication and point mutation in the chromosome fragments; (4) selecting normal or suitable embryos for implantation.
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priorityDate 2013-02-22-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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