http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113308527-A
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_780926f15181377d2d3befc5698175ce |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6874 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6874 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
| filingDate | 2021-03-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bb65b70a01790f24069a24e0d436c712 |
| publicationDate | 2021-08-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-113308527-A |
| titleOfInvention | Gene composition, chip and kit for screening refractory hereditary bone diseases |
| abstract | The invention provides a gene composition, a chip and a kit for screening refractory hereditary bone diseases, wherein the gene composition comprises 322 hereditary bone disease related pathogenic genes. Aiming at the requirement of difficult diagnosis and treatment of difficult osteopathia in China, the group of genome compositions related to hereditary osteopathia and related products (gene chips and kits) provided by the invention are developed by combining genome sequencing and big data analysis on the basis of the existing knowledge of hereditary osteopathia and can be used for diagnosing various hereditary osteopathia, and the kit has the advantages that: the probe can be flexibly customized, the target gene and region can be captured specifically, and especially the pathogenic region not contained in WES can also be captured and sequenced; the method can supplement and optimize areas which cannot be captured by WES, achieves better capturing effect, and is high in coverage rate and high in variation detection precision; the cost performance is higher, the clinical detection is quicker, and the cost is lower. |
| priorityDate | 2021-03-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 201.