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

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2010-03-10

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Kelley, D.R., Salzberg, S.L. Detection and correction of false segmental duplications caused by genome mis-assembly. Genome Biol 11, R28 (2010).

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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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