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filingDate 2020-04-09-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ced9cdef8f26a1c34356f2f1487e8937
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publicationDate 2022-02-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-114026647-A
titleOfInvention Comprehensive detection of unicellular genetic structural variation
abstract The present invention provides a method for detecting Structural Variation (SV) within the genome of a single cell or a population of single cells by integrating three layers of information of sequencing read depth, read strand orientation, and haplotype phasing. The methods of the invention can detect deletions, duplications, polyploids, translocations, inversions, and loss of copy number neutral heterozygosity (CNN-LOH), among others. The method of the invention can fully perform comprehensive karyotype analysis on the genome, and can be applied to research and clinical methods. For example, the methods of the invention can be used to analyze a cell sample from a patient for diagnosis or to aid in diagnosis, to detect embryo abnormalities in reproductive medicine, or to quality control genetically engineered cells in cell therapy-based therapeutic approaches, such as in adoptive T cell therapy, and the like. The methods of the invention may further be applied in research to decipher cell models (cell lines), karyotypes of patient samples, or to further reveal genetic and mechanical pathways leading to the production of any SV within a genome.
isCitedBy http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-116030892-A
priorityDate 2019-04-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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