Systems and methods for the determination of a copy number of a genomic sequence

Abstract

System and methods for the determination of a copy number of a target genomic sequence; either a target gene or genomic sequence of interest, in a biological sample are described. Various methods utilize a model drawn from a probability density function (PDF) for the assignment of a copy number of a target genomic sequence in a biological sample. Additionally, the methods provide for the determination of a confidence value for a copy number assigned to a sample based on attributes of the sample data. Additionally, various embodiments of an interactive graphical user interface (GUI) may provide an end-user with ready analysis of large sets of data representing a plurality of samples. In various embodiments of an interactive GUI, an end-user may be provided with a synchronized display of tabular and graphical sample data determined by an initial analysis according to a statistical model of a PDF. Such a synchronized display may enable an end-user to readily identify sample data for a subsequent analysis based on user input.

What is claimed is: 
     
         1 . A system comprising:
 a processor; and   a memory in communication with the processor; the memory storing instructions for:
 receiving by the processor a data set of data for a copy number assay for a plurality of samples, 
 determining a ΔC t , a copy number and a confidence value for each sample in the plurality of samples; and 
 presenting an end user with an interface for the interactive analysis of the copy number and the confidence value for each sample. 
   
     
     
         2 . The system of  claim 1 , wherein the interactive interface comprises a synchronized display of graphical and tabular results for the plurality of samples. 
     
     
         3 . The system of  claim 2 , where a graphical display of results for the plurality of samples is a probability density scatter plot. 
     
     
         4 . The system of  claim 1 , wherein the interactive analysis of the copy number and the confidence value for each sample comprises end-user selection of sub-distribution grouping.