http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AU-2021202012-A1
Outgoing Links
Predicate | Object |
---|---|
assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ff80631d1cf46c77e99d6ceb87310760 |
classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B15-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2535-122 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate | 2021-03-31-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_d24e0be48bb5b5b4791174db21a51c72 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_896c9c7db16ef0441e1de0c01bfe09c9 |
publicationDate | 2021-04-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | AU-2021202012-A1 |
titleOfInvention | Methods and systems for detecting genetic variants |
abstract | Disclosed herein in are methods and systems for determining genetic variants (e.g., copy nnumber variation) in a polynucleotide sample. A method for determining copy number nvariations includes tagging double-stranded polynucleotides with duplex tags, sequencing npolynucleotides from the sample and estimating total number of polynucleotides mapping to nselected genetic loci. The estimate of total number of polynucleotides can involve estimating nthe number of double-stranded polynucleotides in the original sample for which no sequence nreads are generated. This number can be generated using the number of polynucleotides for nwhich reads for both complementary strands are detected and reads for which only one of the ntwo complementary strands is detected. See Fig. 9. |
priorityDate | 2013-12-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 595.