Article
An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history.
Human mutation - 1 Apr 2010
Gaunt Tom R, Rodriguez Santiago, Guthrie Philip A I, Day Ian N M
Abstract excerpt
Copy number variations (CNVs) are a common form of genetic variation in which the allelic population contains a distribution of copy numbers of a particular gene (or other large sequence/region). The simplest forms describe deletion (0 vs. 1 copy) or duplication (1 vs. 2) events. However, some CN...
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