http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-107058465-B
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6869 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6886 |
| filingDate | 2016-10-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2021-10-01-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2021-10-01-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CN-107058465-B |
| titleOfInvention | Method for detecting balanced translocation of chromosome by using haploid sequencing technology |
| abstract | The invention relates to a method for detecting balanced chromosome translocation by using a haploid sequencing technology, which comprises the following steps: (1) culturing and collecting lymphocytes in a sample to be detected; (2) picking single cells by microinjection and separating chromosomes to obtain haploids; (3) amplification of haploid and construction of library; (4) sequencing the haploid library by second generation sequencing to obtain sequencing data, and comparing the sequencing data with a genome reference sequence to determine the number of translocated chromosomes and the chromosome number; deep sequencing reduces the potential breakpoint region to 12 kb; (5) comparing the double-end characteristics of the sequencing data with the whole genome sequencing data of the sample, analyzing the breakpoint region of 12kb, and finding out all reads meeting the conditions so as to determine the breakpoint of chromosome balance translocation; (6) and carrying out PCR and Sanger sequencing verification. The method provided by the invention can be widely applied to prenatal diagnosis of tumors such as chromosome balance translocation of fetuses, congenital chromosome abnormality disease screening, leukemia and the like. |
| priorityDate | 2016-10-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 19.