Article
Copy-number-variation and copy-number-alteration region detection by cumulative plots.
BMC bioinformatics - 30 Jan 2009
Li Wentian, Lee Annette, Gregersen Peter K
Abstract excerpt
BACKGROUND: Regions with copy number variations (in germline cells) or copy number alteration (in somatic cells) are of great interest for human disease gene mapping and cancer studies. They represent a new type of mutation and are larger-scaled than the single nucleotide polymorphisms. Using genotyping microarray for copy number variation detection has become standard, and there is a need for improving analysis...
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