Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_06c87200cf96acdabeae38cd1101927d |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-112 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6809 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate |
2010-11-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a1cea932e0b7aff1694ca139e54ca6b4 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b70f2a26be1329344e80a19e58fdffb9 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_68e2a8a44ddfc4352da5168e747fcdc6 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a105278b329b93a73ccff5bc1aef9c8f |
publicationDate |
2012-09-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
EP-2496713-A1 |
titleOfInvention |
Size-based genomic analysis |
abstract |
Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at- risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus. |
priorityDate |
2009-11-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |