Detecting Gene Duplications in the Human Lineage

Yuval Itan, Kevin Bryson, Mark G. Thomas

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Gene duplications represent an important class of evolutionary events that is likely to have contributed to the unique human phenotype in the short evolutionary time since the human-chimpanzee divergence. With the availability of both human and chimpanzee genome drafts in high coverage re-sequencing assemblies and the high annotation quality of most human genes, it should now be possible to identify all human lineage-specific gene duplication events (human inparalogues) and a few pioneering studies have attempted to do that. However, the different levels of coverage in the human and chimpanzee's genomes assemblies, and the differing levels of gene annotation, have led to problematic assumptions and oversimplifications in the algorithms and the datasets used to detect human lineage-specific gene duplications. In this study, we have developed a set of bioinformatic tools to overcome a number of the conceptual problems that are prevalent in previous studies and have collected a reliable and representative set of human inparalogues.

Original languageEnglish
Pages (from-to)555-565
Number of pages11
JournalAnnals of Human Genetics
Issue number6
StatePublished - Nov 2010
Externally publishedYes


  • Bioinformatics method
  • Gene duplication
  • Human evolution
  • Human inparalogues


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