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METHODS TO IDENTIFY STRUCTURAL VARIATIONS THAT CAUSE DISEASES AND THE REGIONS TO REPAIR WITH GENE EDITING
METHODS TO IDENTIFY STRUCTURAL VARIATIONS THAT CAUSE DISEASES AND THE REGIONS TO REPAIR WITH GENE EDITING
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机译:鉴定导致疾病和基因编辑修复地区的结构变异的方法
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摘要
Methods of identifying a genetic structural variation include assembling single nucleotide polymorphism (SNP) data from parents and their offspring; analyzing the SNP data for at least one non-Mendelian inheritance pattern (NMI), filtering to remove normal structural variation, and filtering to identify regions that should be conserved but are disrupted. The disrupted regions may be specific to a disease or disorder of interest. Methods of identifying a structural variation in a genome of a patient and treating a disease or disorder related to the structural variation are also disclosed.
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