http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-3745406-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_dd554226db6acd26c2c6b6051e3b54d6 |
| 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/G16B30-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-20 |
| filingDate | 2019-07-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6edc249399809b4a732015e937ae4888 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9d93b01bb58356b3d173d208cc36d65a http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_297394e28ffa9362fc8528344bc8eaac |
| publicationDate | 2020-12-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | EP-3745406-A1 |
| titleOfInvention | System and method for predicting effect of genomic variations on pre-mrna splicing |
| abstract | This disclosure relates generally to method and system for predicting effect of genomic variations on pre-mRNA splicing. The method include receiving genomic position information of at least one candidate variant, gene transcripts and genomic coordinates information of the gene transcripts; classifying the at least one candidate variant into one of a splice acceptor site region and a branch site region based on the coordinates information of the gene transcripts and the genomic position information of at least one candidate variant; evaluating effect of the at least one candidate variant on pre-mRNA splicing, based on a classified region from the classification of the at least one candidate variant and predicting pathogenicity of the at least one candidate variant based on the evaluated effect of the at least one candidate variant on the pre-mRNA splicing. |
| 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: 221.