Methods for the Determination of a Copy Number of a Genomic Sequence in a Biological Sample

摘要

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. Accordingly, the various methods for the determination of a copy number provide the end user with significant information for the evaluation of a copy number of a target genomic sequence; either a gene or genomic sequence of interest.

主权项

1. A method for determining the copy number of a genomic sequence in a biological sample, the method comprising:
calculating a ΔCt value for a target genomic sequence for each sample in a set of biological samples using an endogenous reference genomic sequence; constructing a frequency distribution of the ΔCt values calculated for each sample, wherein the frequency distribution comprises a set of sub-distributions of ΔCt values for the target genomic sequence in a set of biological samples; and determining a copy number for the target genomic sequence for each sample in the set of biological, wherein the determination is an assignment of a copy number for each sample based on a measure of fit between a probability density function model and the frequency distribution.