| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_5ca91c08f1345b83b0959ec30e6be8fb |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6806
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6874
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6881 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G06F19-22
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G06F19-18
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C40B20-04
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C40B20-00 |
| filingDate |
2017-05-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_521da429baeaa1b7134f332b9a749880
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_46e5ca7226af20926d8c849da11bff72
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bd402f15c9e4a68e2569852e6a1cf7cf
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_26002cebe276e9ea594aaf62a8e1200b |
| publicationDate |
2017-11-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
WO-2017193044-A1 |
| titleOfInvention |
Noninvasive prenatal diagnostic |
| abstract |
Prenatal genetic testing allows early detection of genetic disease in a fetus. Described herein are methods of detecting the presence or absence of a genetic variant in a region of interest in the genome of a fetus in a pregnant woman. The methods are noninvasive, and can use cell-free DNA (cfDNA) present in the plasma of the pregnant woman. A DNA library is constructed from the cfDNA, and DNA molecules comprising the region of interest or portions thereof are enriched and analyzed, for example by sequencing. The methods described herein can also rely on constructing a maternal haplotype to provide even higher resolution fetal genetic variant determination. |
| priorityDate |
2016-05-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |