http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110689928-A
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ddc6f4f470b332c84462dd3f526e6304 |
| classificationCPCInventive | 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 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-00 |
| filingDate | 2019-07-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_dbbdef30a59d83c1b1b4d9f430bb4a40 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bc36f3b076026638df1e0da0769bd983 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5a3c8f431a3a4d8103647d5107f59e35 |
| publicationDate | 2020-01-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-110689928-A |
| titleOfInvention | Systems and methods for predicting the effects of genomic variation on pre-mRNA splicing |
| abstract | The present disclosure generally relates to methods and systems for predicting the effect of genomic variation on pre-mRNA splicing. The method includes receiving genomic location information of at least one candidate variant of the gene transcript and coordinate information of the gene transcript; based on the coordinate information of the gene transcript and the genomic location information of the at least one candidate variant The body is classified as one of a splice acceptor site region and a branch site region; the effect of the at least one candidate variant on pre-mRNA splicing is assessed based on the classified region from the classification of the at least one candidate variant; the at least one candidate variant is assessed based on the The effect of variants on pre-mRNA splicing to predict the pathogenicity of at least one candidate variant. |
| isCitedBy | http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113035272-B http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113838522-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-115691662-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113035272-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-113241123-A |
| priorityDate | 2018-07-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 213.