Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.

Joseph Cheung, Xavier Estivill, Razi Khaja, Jeffrey R. MacDonald, Ken Lau, Lap Chee Tsui, Stephen W. Scherer

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176 Citations (Scopus)

Abstract

BACKGROUND: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human genome. We have developed rapid computational heuristics based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome assemblies. RESULTS: Our analysis of the June 2002 public human genome assembly revealed that 107.4 of 3,043.1 megabases (Mb) (3.53%) of sequence contained segmental duplications, each with size equal or more than 5 kb and 90% identity. We have also detected that 38.9 Mb (1.28%) of sequence within this assembly is likely to be involved in sequence misassignment errors. Furthermore, we have identified a significant subset (199,965 of 2,327,473 or 8.6%) of single-nucleotide polymorphisms (SNPs) in the public databases that are not true SNPs but are potential paralogous sequence variants. CONCLUSION: Using two distinct computational approaches, we have identified most of the sequences in the human genome that have undergone recent segmental duplications. Near-identical segmental duplications present a major challenge to the completion of the human genome sequence. Potential sequence misassignments detected in this study would require additional efforts to resolve.

Original languageEnglish
Pages (from-to)R25
JournalGenome biology
Volume4
Issue number4
Publication statusPublished - 2003

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ASJC Scopus subject areas

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

Cite this

Cheung, J., Estivill, X., Khaja, R., MacDonald, J. R., Lau, K., Tsui, L. C., & Scherer, S. W. (2003). Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome biology, 4(4), R25.