Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity.

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 compu...

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Bibliographic Details
Main Authors: Sebastian M Waszak, Yehudit Hasin, Thomas Zichner, Tsviya Olender, Ifat Keydar, Miriam Khen, Adrian M Stütz, Andreas Schlattl, Doron Lancet, Jan O Korbel
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-11-01
Series:PLoS Computational Biology
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21085617/pdf/?tool=EBI