| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_31b445f40bf8dc393a1e528392e97a36
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ff24511a266942820e381f89ea14540f
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_00d8a292f9cb8de0ddb88f6e78420e53 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6827
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12M1-34
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H21-00 |
| filingDate |
2011-11-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_035e5e981e6a96e45b86445478bbfca5
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a7df9a6e8a555dc9d6301dcaaf36e9b7 |
| publicationDate |
2013-05-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-2013122493-A1 |
| titleOfInvention |
Detection of neighboring variants |
| abstract |
The present invention relates to methods, kits, probes, and systems for distinguishing between nucleotide variants that are close in proximity on a gene. The methods, kits, probes, and systems can include the use of a small amplicon assay in combination with two unlabeled probes in a high resolution thermal melting analysis of a biological sample containing a locus of interest in order to discern between disease-causing and benign variants that are close in proximity on a gene within the biological sample. The present invention also relates to method of detecting a disease in a patient based on the patient's genotype by determining whether the patient has a disease-causing variant at a locus of interest. The signature melt curves produced by the unlabeled probe tests can be analyzed using HRMA software to distinguish between disease-causing and benign variants that are close in proximity on a gene within the biological sample. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2018023118-A1
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10072288-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-3491116-A4
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11351545-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/KR-101816573-B1 |
| priorityDate |
2011-11-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |