| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_0996f29e4b7edd026efcb9c9e3b24a69 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2535-122
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2545-101
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2537-16
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2537-165 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6809
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-10 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6809
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-00
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/G16B30-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-00 |
| filingDate |
2021-06-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_37d8b7e75e007e1ca4e2b07b1f9ff0b1
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_82a08dd89819f3367c14dccdad8c5730
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_1c329722c3a39e8629084f703e3ba9f7
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b974740b8c8aa99ffd3ee2ff67466162
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5f328a230c98ed62312a281a519132ee |
| publicationDate |
2021-12-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-2021371907-A1 |
| titleOfInvention |
Using cell-free dna fragment size to determine copy number variations |
| abstract |
Disclosed are methods for determining copy number variation (CNV) associated with a variety of medical conditions. In some embodiments, methods are provided for determining copy number variation (CNV) of fetuses using maternal samples comprising maternal and fetal cell free DNA. In some embodiments, methods are provided for determining CNVs associated with a variety of medical conditions. Some embodiments disclosed herein provide methods to improve the sensitivity and/or specificity of sequence data analysis by deriving a fragment size parameter, such as a size-weighted coverage or a fraction of fragments in a size range. In some embodiments, the fragment size parameter is adjusted to remove within-sample GC-content bias. In some embodiments, removal of within-sample GC-content bias is based on sequence data corrected for systematic variation common across unaffected training samples. Also disclosed are systems and computer program products for evaluation of CNV of sequences of interest. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2020157620-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2023192942-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11430541-B2 |
| priorityDate |
2014-12-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |