| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_78587acbfc8d4c9e9ac3baa7021087d7 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B50-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16H50-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-00 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H21-04
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate |
2017-03-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d8e25583d69ccd7c18ec65a689cb94c7
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_95b9cdbdad372f7263e529be70634007
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a4147db2520367578a9e24117534c232
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2c1c2c717847f51ec79ee6c2fc6c14ae |
| publicationDate |
2017-11-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
WO-2017156290-A9 |
| titleOfInvention |
A novel algorithm for smn1 and smn2 copy number analysis using coverage depth data from next generation sequencing |
| abstract |
The disclosure concerns methods and compositions for obtaining reliable copy numbers of highly homologous gene(s) using next generation sequencing. The methods determine whether or not an individual is a carrier of an autosomal recessive gene mutation using a determination of copy number of two genes, in specific embodiments. In at least some cases, an individual is identified whether or not he or she is a carrier or affected for a genetic defect in SMN1, wherein the defect is associated with spinal muscular atrophy. |
| priorityDate |
2016-03-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |