http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2021236784-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_aa970c74b44e3835758dec17306e245f |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6874 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-00 |
| filingDate | 2021-05-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6c077f0ccd0ac07a1d208de2e0d066a5 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bd76de79f3b919f939cde057ed99e520 |
| publicationDate | 2021-11-25-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | WO-2021236784-A1 |
| titleOfInvention | Methods and systems for detection and phasing of complex genetic variants |
| abstract | Disclosed are methods, systems and computer-program products for the determination of complex genetic variants. The disclosed methods, systems and computer-program products may include obtaining a mutant scaffold nucleotide sequence that comprises a sequence that includes mutations characteristic of the complex genetic variant; obtaining a wild-type scaffold nucleotide sequence having a wild-type sequence; generating an alignment of at least one sequence from the sample to the mutant scaffold and to the wild-type scaffold; and determining that the sample contains a mutation characteristic of the complex genetic variant based on alignment to the mutant scaffold and not the wild-type scaffold. |
| priorityDate | 2020-05-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 22.