Coverage-based detection of copy number alterations in mixed samples using DNA sequencing data: a theoretical framework for evaluating statistical power
Abstract:DNA sequencing can discover not only single-base variants but also copy-number alterations (CNAs). In shotgun sequencing, regions of CNAs show step-wise changes in read depth when compared to adjacent "normal" regions, allowing their detection by parametric statistical tests that compare the mean coverage in suspected regions against that of a baseline distribution.Traditionally, the power of such a test depends on (1) the integer number of copy number change,(2) the overall sequencing depth, (3) the length of… Show more
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