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Detection and correction of false segmental duplications caused by genome mis-assembly

by: David Kelley, Steven Salzberg
Genome Biology, Vol. 11, No. 3. (10 March 2010), R28, doi:10.1186/gb-2010-11-3-r28  Key: citeulike:6792495

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Abstract

Diploid genomes with divergent chromosomes present special problems for assembly software as two copies of especially polymorphic regions may be mistakenly constructed, creating the appearance of a recent segmental duplication. We developed a method for identifying such false duplications and applied it to four vertebrate genomes. For each genome, we corrected mis-assemblies, improved estimates of the amount of duplicated sequence, and recovered polymorphisms between the sequenced chromosomes.


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