| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8f0d61d62d86c276f17f51948cdebc45
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8adaddc602ad7cb7f9e2d550681bb36d |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-10
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-10 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869 |
| filingDate |
2017-12-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_215547a0a29a04e3bd9a8f61360e8408
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_49e1ed347a5a49b67787df67e2cd4a90
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_658cb987bbae8bdd48f8dac9a9f05928 |
| publicationDate |
2019-10-23-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
EP-3555318-A1 |
| titleOfInvention |
Methods and systems for determining paralogs |
| abstract |
Disclosed herein are systems and methods for spinal muscular atrophy (SMA) diagnosis from whole genome sequencing data. In one embodiment, a method comprises aligning whole genome sequencing (WGS) reads of a subject's sample to a modified reference sequence such as a modified reference genome sequence. After counting the reads supporting quasi-alleles at select positions of the reference sequence, the method can adjust for coverage and determine a number of functional SMNl gene copies. The method can determine affected or carrier status of the subject based on the copy number of functional SMNl gene copies. |
| priorityDate |
2016-12-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |