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Detecting Gene Duplications in the Human Lineage
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Evolution, Genomics and Systematics, Evolutionary Biology.
2010 (English)In: Annals of Human Genetics, ISSN 0003-4800, E-ISSN 1469-1809, Vol. 74, no 6, 555-565 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2010. Vol. 74, no 6, 555-565 p.
Keyword [en]
Human inparalogues, gene duplication, bioinformatics method, human evolution
National Category
Biological Sciences
URN: urn:nbn:se:uu:diva-133836DOI: 10.1111/j.1469-1809.2010.00609.xISI: 000283066700010OAI: oai:DiVA.org:uu-133836DiVA: diva2:371056
Available from: 2010-11-18 Created: 2010-11-16 Last updated: 2010-11-18Bibliographically approved

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