Article
Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity.
PLoS computational biology - 11 Nov 2010
Waszak Sebastian M, Hasin Yehudit, Zichner Thomas, Olender Tsviya, Keydar Ifat, Khen Miriam, Stütz Adrian M, Schlattl Andreas, Lancet Doron, Korbel Jan O
Abstract excerpt
Copy-number variations (CNVs) are widespread in the human genome, but comprehensive assignments of integer locus copy-numbers (i.e., copy-number genotypes) that, for example, enable discrimination of homozygous from heterozygous CNVs, have remained challenging. Here we present CopySeq, a novel computational approach with an underlying statistical framework that analyzes the depth-of-coverage of high-throughput...
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