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

David R. Kelley, Steven L. Salzberg

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Article numberr28
JournalGenome biology
Issue number3
StatePublished - Mar 10 2010


ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Cell Biology

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