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Updated: Jun 15, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Detection and correction of false segmental duplications caused by genome mis-assembly
David R Kelley1, Steven L Salzberg
1Center for Bioinformatics and Computational Biology, Institute for Advanced Computer Studies, University of Maryland, College Park, MD 20742, USA. dakelley@umiacs.umd.edu
None:
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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