03.12.2008 - Review articles in prestige journal Nature Genetics
Identification of distribution and functional impact of DNA copy number variation in the rat
The abundance and dynamics of copy number variants (CNVs) in mammalian genomes poses new challenges in the identification of their impact on natural and disease phenotypes. We used computational and experimental methods to catalogue CNVs in the rat and show that they encompass up to 1.5% of the rat genome and share important functional characteristics with human. Furthermore, by exploiting genetic and functional data available for rat recombinant inbred panels we were able to robustly establish the functional relationship of CNVs underlying 16 eQTLs. These characteristics make the rat an excellent model for studying phenotypic effects of structural variation in relation to human complex traits and disease.
V. Guryev, K. Saar, T. Adamovic, M. Verheul, S. A. A. C. van Heesch, S. Cook, M. Pravenec, T. Aitman, H. Jacob, J. D. Shull, N. Hubner, E. Cuppen: Distribution and functional impact of DNA copy number variation in the rat, Nature Genetics 40:538-545, 2008, IF=25.556
Author: pravenec@biomed.cas.cz
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22.3.2010 - 25th International Symposium on MicroScale Bioseparations Prague, March 21-25, 2010
Welcome to the 25th International Symposium on MicroScale Bioseparations Prague, March 21-25, 2010
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