http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AU-2016242953-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_c731b1258bdc5ec03140bf17ca27dc40 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2535-122 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2525-191 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2523-303 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2521-501 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2523-301 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6806 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 2016-04-01-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4f2830bb5f89270ba4666596a1baf9d9 |
| publicationDate | 2017-10-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | AU-2016242953-A1 |
| titleOfInvention | Method for detecting genomic variations using circularised mate-pair library and shotgun sequencing |
| abstract | The invention described herein provides methods and systems for comprehensive genomic analysis that enables the detection of a broad range of genomic variations, including single nucleotide polymorphisms (SNPs), small insertions or deletions (indels), Tandem Base Mutations (TBM), copy number variations (CNVs), structural variations (SVs), and combination thereof, in a single assay. The method employs circularising genomic DNA fragments with a ligated tag sequence, optionally by tagmentation with a transposase, fragmentation by shotgun fragmentation and sequencing of both mate-pair fragments and shotgun fragments and determining genomic variations based on both shotgun and mate-pair fragments. The invention can be used, for example, to analyze the complicated underlying genomic defects in diseases and conditions such as Autism spectrum disorders (ASD), cancers, Alzheimer's disease, and other neurological disorders. |
| priorityDate | 2015-04-02-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 105.