361 results about "Variation (Genetics)" patented technology

Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.

Dual nucleic acid probes with resonance energy transfer moieties are provided. In particular, fluorescent or luminescent resonance energy transfer moieties are provided on hairpin stem-loop molecular beacon probes that hybridize sufficiently near each other on a subject nucleic acid, e.g. mRNA, to generate an observable interaction. The invention also provides lanthanide chelate luminescent resonance energy transfer moieties on linear and stem-loop probes that hybridize sufficiently near each other on a subject nucleic acid to generate an observable interaction. The invention thereby provides detectable signals for rapid, specific and sensitive hybridization determination in vivo. The probes are used in methods of detection of nucleic acid target hybridization for the identification and quantification of tissue and cell-specific gene expression levels, including response to external stimuli, such as drug candidates, and genetic variations associated with disease, such as cancer.

The invention provides a comprehensive, rapid, unbiased, and accurate method for identifying and / or discovering disease-associated genetic variations, e.g., disease-associated variations. The present invention further provides novel disease-associated genetic variations for use as genetic markers of disease, e.g., cancer. The invention further provides methods for assessing an individual's risk for developing a disease, e.g., cancer, by detecting the presence the novel disease-associated genetic variations of the invention.

The invention provides a method for single cell classification and screening and a device therefor. The method comprises the following steps of carrying out comparison of reads obtained by sample sequencing and a reference genome, carrying out data filtration of a comparison result, determining a consistent genotype of all single cell samples according to filtered data, saving the consistent genotype of the all single cell samples into a SNP data set, extracting genotype files of loci corresponding to reference genome SNP data set positions from the saved SNP data set, selecting a cell mutation SNP locus, and carrying out cell classification and functional gene screening according to a genotype file of the cell mutation SNP locus. The method and the device avoid cell marking, solve the problem that the traditional single cell classification method can not realize classification of a certain cell subset having no corresponding specific markers, realize complete analysis of genetic variation information of a single cell genome, and greatly improve the accuracy of cell subset classification.