In the Proceedings of the National Academy of Sciences, University of Cambridge researchers report that by taking a look at copy number variation classifications in a subset of HapMap data along with familial information, they could model the CNVs on each chromosome and estimate the false-positive classifications. "By taking account of chromosome-specific copy number changes, this model and other similar approaches are vital if we are to obtain better insights into the extent and role of CNV in the genome," write the authors.
Modeling CNVs
Jul 24, 2008
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