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filingDate 2020-06-19-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_91b9121d37e60179cfc8b24268a92cc8
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publicationDate 2022-04-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-114402392-A
titleOfInvention System and method for validating copy number variation in human embryos using single nucleotide variation density
abstract A method for verifying regions of genomic variation in embryos is disclosed. Embryo sequencing data is received by one or more processors. Received embryo sequencing data is aligned to a reference genome by one or more processors. One or more processors identify regions of genomic variation in the aligned embryo sequencing data. A number of single nucleotide variants (SNVs) are counted in the identified regions of genomic variation by one or more processors. Normalizing, by one or more processors, the number of counts of SNVs in the identified regions of genomic variation corresponding to baseline counts of SNVs in the reference regions of the identified regions of genomic variation to generate normalized SNVs for regions of genomic variation density. If the normalized SNV density in the identified regions of genomic variation meets the tolerance criteria, the identified regions of genomic variation are validated by one or more processors.
priorityDate 2019-06-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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