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Data from whole genome association studies can now be used for dual purposes, genotyping and copy number detection. In this review we discuss some of the methods for using SNP data to detect copy number events. We examine a number of algorithms designed to detect copy number changes through the use of signal-intensity data and consider methods to evaluate the changes found. We describe the use of several statistical models in copy number detection in germline samples. We also present a comparison of data using these methods to assess accuracy of prediction and detection of changes in copy number.

Original publication




Journal article


Briefings in functional genomics & proteomics

Publication Date





353 - 366


Oxford University, Oxford, UK.


Oligonucleotide Array Sequence Analysis, Markov Chains, Polymorphism, Single Nucleotide, Algorithms, Software, DNA Copy Number Variations