http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AU-2020271633-A1
Outgoing Links
Predicate | Object |
---|---|
assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_25c76b5b8293c2914fadced494084bcf http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_3d3b0bb8c2b7c35b9186ae51aceaae04 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_e2817954cd008bcd609a4c4eb49050be |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B50-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-00 |
classificationIPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B50-10 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-20 |
filingDate | 2020-04-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2c21029b704392738afee5ca900a68c2 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_68e127b0bdd0b17ceef07249afdb3aff http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_765c7826a26477bc72211b82d182d99e http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_78f49f44adbf7743d4d8b57a7c60faf3 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_0b64e84fa994cd191f5b0644ec46b9c2 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5eac258952a31dafd280750b99b0b13d |
publicationDate | 2021-11-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | AU-2020271633-A1 |
titleOfInvention | Comprehensive detection of single cell genetic structural variations |
abstract | [1] The present invention provides a method for detecting structural variations (SV) within genomes of single cells or population of single cells by integrating a three-layered information of sequencing read depth, read strand orientation and haplotype phase. The method of the invention can detect deletions, duplications, polyploidies, translocations, inversions, and copy number neutral loss of heterozygosity (CNN-LOH), and more. The method of the invention can fully karyotype a genome comprehensively, and may be applied in research and clinical approaches. For example, the methods of the invention are useful for analysing cellular samples of patients for diagnosing or aiding a diagnosis, in reproductive medicine to detect embryonic abnormalities, or during therapeutic approaches based on cellular therapies to quality control genetically engineered cells, such as in adoptive T cell therapy and others. The method of the invention may further be applied in research to decipher the karyotypes of cellular models (cell lines), patient samples, or to further unravel genetic and mechanistic pathways leading to the generation of any SV within genomes. |
priorityDate | 2019-04-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 89.