http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AU-2019202216-B2
Outgoing Links
Predicate | Object |
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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 | 2019-03-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate | 2021-06-03-04:00^^<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_d24e0be48bb5b5b4791174db21a51c72 |
publicationDate | 2021-06-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | AU-2019202216-B2 |
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.nWO 2015/100427 11/11 PCT/US2014/072383 n< 80 nucleotides n5' 3' Partial n(A) 3' E[ 5' adaptor nPrimer hybridization site Barcode < 10 nucleotides nsequence n( B Tagged n3' E -|- 5' polynucleotide n5' O O N 3_ _ n3' s] 3 nSample identification motif nSample identification motif nSequencer motif Sequencer motif nFig. 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: 596.