http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114480667-A
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_6c67a26a2289a3923f43e34e6934d765 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B50-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6888 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B50-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6888 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869 |
| filingDate | 2022-01-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3f96eac432dbef6bc90fcbd51170127d http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_e32545908fac1251b43ea71060463139 |
| publicationDate | 2022-05-13-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-114480667-A |
| titleOfInvention | A method for detecting fetal chromosome balance structural variation by cell-free DNA in maternal peripheral blood |
| abstract | The invention discloses a method for detecting fetal chromosome balance structural variation through free DNA in maternal peripheral blood, including the construction of a nuclear family haplotype model and the detection of fetal structural variation. By collecting the families of couples carrying chromosomal rearrangement variants, SNP genotyping was performed, the haplotypes of structurally rearranged chromosomes and structurally normal chromosomes were clarified, and a genome-wide haplotype model was constructed. The cell-free DNA in the peripheral blood of pregnant women was captured and sequenced, and the fetal genotype and haplotype in the cell-free DNA were estimated and analyzed according to the hidden Markov model. Embryonic chromosome structural rearrangements are predicted. The present invention proposes for the first time that the abnormality of fetal balance chromosomal structure can be detected by cfDNA in the peripheral blood of pregnant women, which provides important guidance for the prevention and diagnosis of chromosomal diseases. |
| isCitedBy | http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2023138131-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114841294-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114841294-B http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-115064210-A |
| priorityDate | 2022-01-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 48.