Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_0996f29e4b7edd026efcb9c9e3b24a69 |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-112 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-106 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-10 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/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-10 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6809 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6806 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-00 |
filingDate |
2022-04-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b974740b8c8aa99ffd3ee2ff67466162 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_08fe48025cf8e527a0b9e43a209c9010 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_37d8b7e75e007e1ca4e2b07b1f9ff0b1 |
publicationDate |
2022-07-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
US-2022228197-A1 |
titleOfInvention |
Method for determining copy number variations |
abstract |
The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the present method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample. Any aneuploidy can be determined from sequencing information that is obtained by sequencing only once the nucleic acids of a test sample. |
priorityDate |
2010-10-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |