Article

Coverage-based detection of copy number alterations in mixed samples using DNA sequencing data: a theoretical framework for evaluating statistical power

2018-09-10

Abstract excerpt

1 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 depend...

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Literature Corpus work: c63984c2-10f5-510d-ae13-26bae31af6cb
DOI: 10.1101/413690

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