SYSTEMS AND METHODS FOR USING DENSITY OF SINGLE NUCLEOTIDE VARIATIONS FOR THE VERIFICATION OF COPY NUMBER VARIATIONS IN HUMAN EMBRYOS

摘要

A method for verifying a genomic variant region in an embryo, is disclosed. Embryo sequencing data is received by one or more processors. The received embryo sequencing data is aligned to a reference genome, by the one or more processors. A genomic variant region is identified in the aligned embryo sequencing data, by the one or more processors. A number of single nucleotide variants (SNVs) is counted in the identified genomic variant region, by the one or more processors. The counted number of SNVs in the identified genomic variant region is normalized against a baseline count of SNVs for a reference region corresponding to the identified genomic variant region to generate a normalized SNV density for the genomic variant region, by the one or more processors. The identified genomic variant region is verified, by the one or more processors, if the normalized SNV density in the identified genomic variant region satisfies a tolerance criterion.