DETECTION OF GENE DUPLICATIONS
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Abstract
Methods of detecting a candidate genetic anomaly such as a candidate duplication in a genome are disclosed. The methods comprise quantifying fluorogenic assays for alleles of a genetic locus from a plurality of individual genomes, identifying ranges of fluorescent intensities indicative of individual genomes homozygous for a first allele, homozygous for a second allele, or heterozygous for both alleles, and identifying individual genomes in which the fluorescence intensities are outside the range of intensities indicative of homozygosity or heterozygosity for the genetic locus.
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Citations
43 Claims
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1-24. -24. (canceled)
- 25. A system for identifying a candidate genetic anomaly in a population, the system comprising a graphical interface which exhibits a plurality of data points, wherein each data point occupies a position representing fluorescence intensities of a first fluorophore and a second fluorophore from an individual genomic sample subjected to a fluorogenic assay for alleles of a genetic locus, wherein fluorescence intensity of a first fluorophore is indicative of the presence of a first allele and fluorescence intensity of a second fluorophore is indicative of the presence of a second allele, and wherein a cluster of data points is indicative of a genome homozygous for the first allele, a genome homozygous for the second allele, or a genome heterozygous for the first and second alleles, and wherein a data point outside any cluster represents an individual genome comprising a candidate genetic anomaly.
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43-72. -72. (canceled)
Specification