http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2023005569-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_aa970c74b44e3835758dec17306e245f |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B40-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G06N5-022 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B20-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G16B40-20 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G06N5-02 |
| filingDate | 2022-06-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9d890ef2ee0f98d08a8b366504953508 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_783d962f7fb5258cc84cc6a6a7509087 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6c077f0ccd0ac07a1d208de2e0d066a5 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_254d980fdcb17c4df7e5be891d373b15 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_543a58621881b9f287e7f14cead05b0a |
| publicationDate | 2023-01-05-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | US-2023005569-A1 |
| titleOfInvention | Chromosomal and Sub-Chromosomal Copy Number Variation Detection |
| abstract | The present disclosure relates to assessment of genetic variation, and in particular to techniques for detection of chromosomal and sub-chromosomal copy number variations. In one aspect, a computer-implemented method is provided for detecting a presence or absence of copy number variation in a target sample. The method includes obtaining sequencing data for a plurality of samples, determining a first normalized coverage for each segment/element in each of the samples according to the sequencing data, determining a second normalized coverage, including a copy number, for each segment/element in each of the samples according to the first normalized coverage, classifying the copy number for each segment/element in a target set in the target sample based on rule-based approaches, machine learning based approaches, or a combination thereof, and outputting a presence or absence of a copy number variation for each segment/element in the target set in the target sample according to the classification. |
| priorityDate | 2021-06-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 41.