http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2021180128-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_b01dcd61775e996fac631d4b10c4e87f |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6809 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-16 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6876 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6858 |
| filingDate | 2018-08-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_922f702a6468ee93699c3370ca13f243 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2ebe4e9ee102f5e5209f522ad91ced6d |
| publicationDate | 2021-06-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | US-2021180128-A1 |
| titleOfInvention | Method to confirm variants in ngs panel testing by snp genotyping |
| abstract | The present invention belongs to the field of methods to validate genotyping results obtained by Next-Generation Sequencing (NGS) for a series of patients, to detect sample mix-ups and prevent misdiagnosis. In particular, the present invention relates to a method to validate Next-generation sequencing (NGS) genotyping results of a panel of genes tested in a series of at least 2 patients characterized in that said validation is provided by SNP profiling assay, adapted for allele-specific multiplex PCR, allowing accurate validation of NGS data by sample pairing. The present invention also relates to a kit comprising PCR multiplex reagents and/or NGS oligonucleotide probes or primers designed to capture or amplify sequences comprising a combination of at least 8 SNPs and its use for validating NGS genotyping results. |
| priorityDate | 2017-08-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 79.