Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8e071d18fea054bf8d1420d483e78ed1 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_1e74277852f1aae0a3ff13f59a65456d http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_0c1b682297fca71780e2fcbd71bb64ec |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6809 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6806 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate |
2014-02-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bd275d21ddf2495ab5ab3238a110aa11 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_46651bd7d4dacd57bdd2bbbdef1bbab8 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_47ae4d67fb84070e1f1b647c6916486d http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d4861cfe1ecf6f2031bacb68bed8b3fe http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_50cb90a536ed2c4411f92b3cfebc98ca http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_fad463efe54fa64513b566e857e40f69 |
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. |
isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110283904-A |
priorityDate |
2013-02-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |