http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AU-2013203446-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_06c87200cf96acdabeae38cd1101927d http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_efbd211e8dd496ddf7abf25a01d301cb |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 2013-04-10-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4412dd5c9cf8d95a78bd826997ecab20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d38a892711c8bb9d3cd8056cb50743bd http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2029652f9520b3bef4a9a133f2322ae4 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_834500441cce3d5bc9ed482f589eab2d |
| publicationDate | 2013-05-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | AU-2013203446-A1 |
| titleOfInvention | Identifying a de novo fetal mutation from a maternal biological sample |
| abstract | Systems, methods, and apparatus for determining at least a portion of fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci. The amounts of DNA fragments of the respective alleles at 5 these loci can be analyzed together to determine relative amounts of the haplotypes for these loci and determine which haplotpes have been inherited from the parental genomes. Loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes common in the population can be used along with the analysis of the DNA fragments of the maternal sample 10 to determine the maternal and paternal genomes. Determination of mutations, a fractional fetal DNA concentration in a maternal sample, and a proportion of coverage of a sequencing of the maternal sample can also be provided. 4231050_1 (GHMatters) P90427.AU.1 |
| priorityDate | 2009-11-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 337.