http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2019113577-A1

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classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6876
filingDate 2018-12-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_33e0ef2115fc12a7d615ec9c3035c5b3
publicationDate 2019-06-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2019113577-A1
titleOfInvention A Multiplexed Method for Detecting DNA Mutations and Copy Number Variations
abstract Disclosed is a method for simultaneously detecting a large number of mutations of different target genes with high specificity and sensitivity. It exploits single-molecule clonal amplification techniques, a hybridization-based decoding technique and a primer extension-based detection method to enable simultaneous measurement of hundreds and thousands of mutation DNAs in a sample. Also disclosed is a method for detecting copy number variation with high sensitivity and accuracy. The invention provides a method for efficiently and accurately counting thousands and millions of sequences from a plurality of target regions, enabling detection of copy number variation at the whole genome, the whole chromosome, sub-chromosomes or single gene level.
priorityDate 2017-12-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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