Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_73e0d5808f34f512649e277bd216a344 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B30-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B40-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B30-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-20 |
filingDate |
2019-03-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ecf7a75b4e8c87b1a00e5a1318f1331b http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a48bf16ab4f3fcfe92ebecf66be0817a http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4f4656e380e58fdf67eee2267a8ea4e6 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_151b524a57cedaa4dbc9129ee5158a52 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ddf486129fbbcb7bfba894577d2a40dc http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_70f65ef0e68501eff03aaf11da6343d9 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4f44aaa55837e73b849158e854dc1912 |
publicationDate |
2020-12-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
US-2020402613-A1 |
titleOfInvention |
Improvements in variant detection |
abstract |
The present invention provides a computer-implemented method for detecting cell-free DNA (cfDNA), such as circulating tumour DNA, in a DNA-containing sample obtained from a patient, the method comprising: (a) providing loci of interest comprising at least 2 mutation-containing loci representative of a tumour of the patient (“patient-specific loci”); (b) providing sequence data comprising sequence reads of a plurality of polynucleotide fragments from a DNA-containing sample from the patient, wherein said sequence reads span said at least 2 mutation-containing loci of step (a); (c) optionally, performing reads collapsing to group the sequence reads into read families; (d) calculating the mutant allele fraction across some or all of said at least 2 patient-specific loci, optionally wherein the mutant allele fraction is calculated by aggregating mutant reads and total reads; (e) classifying the sample as containing or not containing the target cfDNA based on the calculated mutant allele fraction. Also provided a related methods and systems. |
isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2022187862-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-115376612-A |
priorityDate |
2018-03-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |