Invention Grant
US09328343B2 Method and compositions for detection and enumeration of genetic variations
有权
用于检测和计数遗传变异的方法和组合物
- Patent Title: Method and compositions for detection and enumeration of genetic variations
- Patent Title (中): 用于检测和计数遗传变异的方法和组合物
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Application No.: US13311120Application Date: 2011-12-05
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Publication No.: US09328343B2Publication Date: 2016-05-03
- Inventor: Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
- Applicant: Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
- Applicant Address: US MD Baltimore
- Assignee: The Johns Hopkins University
- Current Assignee: The Johns Hopkins University
- Current Assignee Address: US MD Baltimore
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; C12N15/10 ; C07H21/04

Abstract:
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.
Public/Granted literature
- US20120183967A1 Method and Compositions for Detection and Enumeration of Genetic Variations Public/Granted day:2012-07-19
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