| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ff80631d1cf46c77e99d6ceb87310760 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2535-122
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B15-00 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6886
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869 |
| filingDate |
2019-12-13-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_896c9c7db16ef0441e1de0c01bfe09c9
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9b6cd2ffe978750f94c2944c2f35b75c |
| publicationDate |
2020-04-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-2020131568-A1 |
| titleOfInvention |
Methods and systems for detecting genetic variants |
| abstract |
Disclosed herein in are methods and systems for determining genetic variants (e.g., copy number variation) in a polynucleotide sample. A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides from the sample and estimating total number of polynucleotides mapping to selected genetic loci. The estimate of total number of polynucleotides can involve estimating the number of double-stranded polynucleotides in the original sample for which no sequence reads are generated. This number can be generated using the number of polynucleotides for which reads for both complementary strands are detected and reads for which only one of the two complementary strands is detected. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11180803-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11525163-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11286531-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11453913-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11773440-B2
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11459611-B2 |
| priorityDate |
2013-12-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |